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Sideroblastic anemia

Sideroblastic anemia is a rare heterogenous group of inherited and acquired disorders characterized by ineffective erythropoiesis due to impaired iron utilization, leading to the accumulation of iron in the mitochondria of erythroid precursors and the formation of ring sideroblasts in the bone marrow.^[1] This condition results in anemia of varying severity, with normal or elevated serum iron levels distinguishing it from iron deficiency anemias, and it can manifest as microcytic, normocytic, or macrocytic red blood cell morphology depending on the subtype.^[1] The etiology of sideroblastic anemia is broadly divided into congenital and acquired forms. Congenital sideroblastic anemias are primarily genetic, often involving mutations in genes critical for heme biosynthesis or mitochondrial iron metabolism, such as ALAS2 (X-linked inheritance, the most common form), SLC25A38 (autosomal recessive), or mitochondrial DNA mutations like those in SLC19A2 associated with thiamine-responsive variants.^[1] Acquired forms are either primary, such as myelodysplastic syndromes (MDS) with ring sideroblasts often linked to SF3B1 mutations, or secondary to reversible causes including nutritional deficiencies (e.g., copper or vitamin B6), toxins (e.g., alcohol, lead), drugs (e.g., isoniazid, linezolid), or chronic diseases.^[1] Epidemiologically, it affects all age groups but is uncommon, with an estimated prevalence below 200,000 cases in the United States, though precise incidence data are limited due to its rarity.^[1] Clinically, patients typically present with symptoms of anemia such as fatigue, weakness, dyspnea on exertion, and pallor, while signs may include tachycardia, splenomegaly, or, in cases of iron overload, bronze hyperpigmentation of the skin.^[1] Diagnosis relies on peripheral blood smear showing dimorphic red cells, iron studies revealing high serum ferritin and transferrin saturation, and definitive bone marrow examination confirming ≥15% ring sideroblasts via Prussian blue staining.^[1] Some syndromic congenital cases may involve additional features like ataxia, diabetes, or hearing loss.^[1] Treatment is tailored to the underlying cause and severity. For pyridoxine-responsive congenital forms, particularly X-linked, high-dose vitamin B6 (50-100 mg daily) can improve hemoglobin levels.^[1] Acquired secondary cases often resolve with removal of the offending agent or nutritional supplementation, such as copper replacement.^[1] In transfusion-dependent patients, including those with MDS, supportive care involves red blood cell transfusions, iron chelation therapy (e.g., deferasirox) to prevent overload, and targeted therapies like luspatercept or hypomethylating agents (e.g., azacitidine).^[1] Prognosis varies widely: reversible acquired forms have excellent outcomes, while MDS-associated cases carry a risk of progression to acute myeloid leukemia (7-10%), though SF3B1-mutated subtypes are relatively favorable.^[1]

Overview and Epidemiology

Definition and Pathophysiology Basics

Sideroblastic anemia is a rare hematologic disorder characterized by the presence of ring sideroblasts in the bone marrow, which are erythroid precursors containing iron-laden mitochondria forming perinuclear rings due to defective heme biosynthesis.^[1]^[2] This impairment disrupts the normal production of hemoglobin, leading to anemia despite sufficient iron availability.^[1] In erythropoiesis, erythroid mitochondria play a central role in iron utilization by facilitating key steps of heme synthesis, including the incorporation of ferrous iron into protoporphyrin IX by the enzyme ferrochelatase to form heme, the oxygen-carrying component of hemoglobin.^[1]^[2] Defects in heme biosynthesis—typically involving enzymes or processes within the mitochondrial compartment—prevent this iron incorporation, causing excess iron to accumulate in the mitochondria of developing erythroblasts.^[1] This mitochondrial iron overload results in the formation of ring sideroblasts and contributes to ineffective erythropoiesis, where erythroid precursors undergo apoptosis or fail to mature, exacerbating the anemia.^[2]^[1] Ring sideroblasts distinguish sideroblastic anemia from other anemias, such as those due to iron deficiency or chronic disease, as they represent a hallmark of dysregulated iron handling within erythroid cells rather than overall iron scarcity.^[2] These structures are identified via Prussian blue staining (Perls' reaction) in bone marrow aspirates, appearing as blue granules encircling at least one-third of the nucleus in erythroblasts, with the condition diagnosed when they comprise ≥15% of nucleated erythroid precursors.^[1]^[3] The disorder was first described in the 1940s through bone marrow iron studies that identified abnormal perinuclear iron deposits in erythroid cells, with its recognition as a distinct entity codified in the 1960s via classification systems.^[4] Sideroblastic anemia includes both congenital and acquired subtypes.^[1]

Incidence and Prevalence

Sideroblastic anemia is a rare disorder, with congenital forms estimated to affect fewer than 1 in 100,000 individuals globally, based on reported cases numbering in the hundreds of families worldwide.^[5] Acquired forms are more common, comprising approximately 10-20% of myelodysplastic syndrome (MDS) cases, where MDS itself has an overall incidence of about 4-5 new cases per 100,000 people annually, rising significantly in those over 60 years to establish higher rates in the elderly population.^[6]^[7] Congenital sideroblastic anemia predominantly presents in childhood, with X-linked variants more frequent in males due to inheritance patterns, while acquired cases are linked to individuals over age 50 and show elevated occurrence in specific groups, such as chronic alcohol consumers exposed to ethanol toxicity.^[8]^[1] Pediatric cases remain exceptionally rare compared to adult-onset acquired forms, which align with the age-related rise in MDS incidence.^[9] Underdiagnosis is prevalent owing to the absence of routine bone marrow screening for ring sideroblasts, often leading to initial misclassification as iron deficiency anemia, compounded by the disorder's rarity and heterogeneous presentation.^[1] Recent genomic studies from 2024 have identified pathogenic variants in 56% of pediatric sideroblastic anemia cases evaluated, underscoring the value of targeted genetic testing to improve detection rates.^[10] Global epidemiological data remain limited due to the condition's low incidence, with fewer than 200,000 affected individuals in the United States and calls for dedicated registries highlighted in post-2023 reviews of rare anemias to better track patterns and variants.^[1]^[11]

Classification

Congenital Sideroblastic Anemia

Congenital sideroblastic anemia (CSA) encompasses a heterogeneous group of inherited disorders characterized by defective heme biosynthesis or mitochondrial iron utilization, leading to ring sideroblasts in erythroid precursors and ineffective erythropoiesis. The condition primarily manifests in infancy or childhood, with inheritance patterns including X-linked recessive (most common), autosomal recessive, and rare autosomal dominant forms. X-linked sideroblastic anemia (XLSA), due to mutations in the ALAS2 gene on chromosome Xp11.21, represents the predominant subtype, affecting heme synthesis by impairing the pyridoxine-dependent enzyme 5'-aminolevulinate synthase 2 (ALAS2); over 100 distinct mutations, including missense, nonsense, and frameshift variants, have been identified. This form exhibits X-linked recessive inheritance, primarily impacting males while females serve as carriers, though skewed X-chromosome inactivation can lead to manifestations in females.^[12]^[13]^[1] Autosomal recessive CSA often arises from mutations in genes such as SLC25A38 on chromosome 3p22.1, which encodes a mitochondrial glycine transporter essential for heme production; SLC25A38 mutations are the most common cause of autosomal recessive CSA and typically present with severe, transfusion-dependent microcytic anemia in early infancy. Other autosomal recessive causes include defects in genes like GLRX5 or HSPA9 involved in iron-sulfur cluster biogenesis. Rare autosomal dominant forms have been reported but lack well-defined genetic associations in large cohorts. Approximately 30-80% of XLSA cases respond to pyridoxine (vitamin B6) supplementation, reflecting ALAS2's reliance on this cofactor for enzymatic activity, whereas autosomal recessive forms are generally unresponsive.^[12]^[13]^[1]^[14] Several syndromic variants of CSA highlight additional organ involvement beyond hematologic abnormalities. Pearson syndrome, a mitochondrial disorder due to large deletions in mitochondrial DNA, features CSA alongside refractory macrocytic anemia, exocrine pancreatic insufficiency, and lactic acidosis, often presenting in infancy with high mortality. X-linked sideroblastic anemia with spinocerebellar ataxia (XLSA/A), caused by ABCB7 mutations, combines microcytic anemia with cerebellar ataxia and variable neurologic deficits, typically emerging in childhood. Thiamine-responsive megaloblastic anemia syndrome (TRMA), resulting from SLC19A2 mutations, includes megaloblastic anemia, sensorineural deafness, and diabetes mellitus, with hematologic features responsive to thiamine rather than pyridoxine. These syndromic forms underscore the diverse genetic etiologies disrupting mitochondrial function in CSA.^[12]^[13]^[1] Recent research has illuminated the role of skewed X-chromosome inactivation in XLSA manifestation among female carriers. A 2025 study identified five novel ALAS2 mutations (p.Lys166Met, p.Asn169Ile, p.Ile372Thr, p.Gly443Asp, and p.Ter588ArgextTer120) in seven patients, including four females, where skewed inactivation in hematopoietic cells explained variable phenotypes such as macrocytosis; functional assays confirmed reduced ALAS2 activity, emphasizing the need for genetic testing in atypical presentations. Iron overload, a common complication in untreated CSA, can contribute to hepatic and cardiac issues.^[15]

Acquired Sideroblastic Anemia

Acquired sideroblastic anemia encompasses non-inherited forms of the disorder, characterized by impaired heme synthesis leading to iron accumulation in erythroid precursors, and is broadly divided into clonal (malignant) and reversible subtypes based on bone marrow clonality and response to intervention.^[1] The clonal subtype predominantly manifests as refractory anemia with ring sideroblasts (RARS) or RARS with thrombocytosis (RARS-T) within the spectrum of myelodysplastic syndromes (MDS), now reclassified under the World Health Organization (WHO) as MDS with ring sideroblasts (MDS-RS) or MDS/myeloproliferative neoplasm (MPN) with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T). Under the 2022 WHO classification, cases with SF3B1 mutations are primarily classified as MDS with mutated SF3B1, even without sufficient ring sideroblasts. These entities feature dysplasia in erythroid lineage and a risk of progression to acute myeloid leukemia, distinguishing them from non-clonal forms.^[1]^[16]^[4] A hallmark of the clonal subtype is the presence of heterozygous, acquired mutations in the SF3B1 gene in 80-90% of cases, which disrupt RNA splicing and impair the heme biosynthetic pathway, particularly affecting ferrochelatase activity and leading to mitochondrial iron overload.^[4] These mutations often represent the sole genetic abnormality in many patients, underscoring their driver role in MDS-RS pathogenesis.^[4] MDS-RS accounts for approximately 10% of all MDS cases, with a median age at diagnosis of 70 years and a slight male predominance.^[17]^[18] In contrast, the reversible subtype includes idiopathic cases or those secondary to transient factors, where ring sideroblasts resolve upon addressing the underlying trigger, without evidence of clonality or dysplasia.^[1] Ring sideroblasts are defined as nucleated erythroid precursors with five or more iron-laden mitochondria (siderotic granules) forming a perinuclear ring that encircles at least one-third of the nuclear circumference, visualized by Prussian blue staining. For diagnostic purposes in MDS-RS, ≥15% ring sideroblasts in bone marrow erythroid precursors is required, though this threshold lowers to ≥5% in the presence of SF3B1 mutations.^[1]^[16] Clonal forms exhibit persistent dysplasia and potential for leukemic evolution, whereas reversible forms lack these features and show normalization post-trigger removal, highlighting the importance of clonality assessment for prognosis and management.^[1] Recent 2024 reviews reinforce SF3B1 mutations as a key diagnostic marker for MDS-RS, enabling subtype-specific therapeutic targeting, such as with luspatercept, and emphasizing their association with relatively favorable outcomes compared to other MDS variants when isolated.^[19]

Causes

Genetic and Inherited Factors

Inherited sideroblastic anemia arises from germline mutations in genes critical for heme biosynthesis and mitochondrial iron homeostasis, distinguishing it from acquired forms. The most prevalent genetic cause is mutations in the ALAS2 gene, located on the X chromosome, which encodes erythroid-specific 5-aminolevulinate synthase, the rate-limiting enzyme in heme production.^[20] These mutations account for the majority of nonsyndromic X-linked sideroblastic anemia cases. Other key genes include SLC25A38, which encodes a mitochondrial glycine transporter essential for importing glycine into mitochondria for heme synthesis, and GLRX5, which plays a role in iron-sulfur cluster biogenesis required for the function of mitochondrial enzymes involved in heme pathways.^[21]^[22] Inheritance patterns for these genetic forms are well-defined. ALAS2 mutations exhibit X-linked inheritance, with hemizygous males typically presenting more severely due to the absence of a second X chromosome, while females may show variable expressivity from skewed X-inactivation.^[12] In contrast, SLC25A38 and GLRX5 mutations follow autosomal recessive inheritance, necessitating homozygous or compound heterozygous variants for disease manifestation.^[23] Pathogenic mechanisms center on disruptions to heme synthesis, resulting in protoporphyrin IX deficiency and mitochondrial iron overload. Mutations in ALAS2 directly impair the first committed step of heme biosynthesis by reducing 5-aminolevulinate production, leading to insufficient protoporphyrin IX and iron accumulation as ring sideroblasts within erythroid mitochondria.^[24] Similarly, SLC25A38 defects limit glycine availability for 5-aminolevulinate formation, while GLRX5 mutations compromise iron-sulfur cluster assembly, indirectly destabilizing heme biosynthetic enzymes and promoting iron trapping in mitochondria.^[25] These processes culminate in ineffective erythropoiesis characterized by mitochondrial iron deposition. Next-generation sequencing has revolutionized diagnostic genetics for inherited sideroblastic anemia, identifying causative variants in approximately 50-60% of congenital cases through targeted gene panels or whole-exome approaches. A 2024 genomic study of pediatric patients with unexplained anemia demonstrated a diverse genetic landscape, with pathogenic variants detected in 56% of the cohort, the majority confirming congenital sideroblastic anemia diagnoses. Rare inherited variants include mitochondrial DNA mutations, such as large-scale deletions observed in Pearson syndrome, which disrupt oxidative phosphorylation and lead to sideroblastic features.^[27] Certain genetic forms are associated with syndromic congenital sideroblastic anemia, as outlined in the classification section.

Environmental and Acquired Triggers

Acquired sideroblastic anemia often arises from extrinsic factors that disrupt heme synthesis or iron metabolism in erythroid precursors, distinguishing it from congenital forms by its potential reversibility upon trigger removal.^[1] Drug-induced cases are prominent, with antitubercular agents like isoniazid interfering with pyridoxine (vitamin B6) metabolism, thereby inhibiting the pyridoxal phosphate-dependent enzyme 5-aminolevulinic acid synthase essential for heme production.^[28] Similarly, antibiotics such as chloramphenicol and linezolid cause mitochondrial toxicity, impairing protein synthesis and leading to iron accumulation in ring sideroblasts.^[28] Chronic alcohol excess represents another drug-like trigger, as it directly suppresses heme synthesis enzymes and exacerbates nutritional deficiencies, resulting in vacuolization of erythroid precursors.^[1] Toxin exposures, particularly lead poisoning, inhibit key enzymes in the heme biosynthetic pathway, including ferrochelatase and delta-aminolevulinic acid dehydratase, causing protoporphyrin accumulation and sideroblast formation.^[12] Copper deficiency, though rare, mimics this effect by impairing ceruloplasmin function and iron transport, often occurring after bariatric surgery or excessive zinc supplementation that antagonizes copper absorption.^[29] Nutritional deficiencies contribute significantly, with vitamin B6 shortfall—frequently linked to malnutrition, alcoholism, or isoniazid use—disrupting heme initiation and reversible through supplementation.^[12] Myelodysplastic syndromes (MDS) with ring sideroblasts can also precipitate acquired forms via dysregulated iron metabolism, though these often involve clonal elements.^[28] Many cases of environmentally or acquired trigger-induced sideroblastic anemia are reversible, with hematologic recovery observed in weeks following alcohol cessation or toxin elimination, and up to several months with nutritional repletion like copper or pyridoxine.^[29]

Clinical Presentation

Symptoms

Patients with sideroblastic anemia commonly experience symptoms related to chronic anemia, including fatigue, weakness, pallor, shortness of breath, dizziness, palpitations, and headache.^[1]^[30] These manifestations arise from reduced oxygen-carrying capacity due to ineffective erythropoiesis and the presence of ring sideroblasts in the bone marrow.^[12] In moderate to severe cases, with hemoglobin levels below 8 g/dL, patients may develop exertional dyspnea and, if untreated, progress to high-output heart failure.^[1]^[31] Iron overload, a hallmark of the disorder due to mitochondrial iron accumulation, contributes additional symptoms such as abdominal pain and arthralgias from hemosiderosis.^[1] In advanced cases, this can lead to cardiac complications like arrhythmias and endocrine disturbances, including diabetes mellitus.^[32]^[12] The presentation varies by type. Congenital forms often manifest in childhood with growth delay and developmental issues, alongside anemia symptoms.^[33]^[34] Acquired sideroblastic anemia, frequently seen in the elderly, has an insidious onset with progressive fatigue and weakness.^[1]^[31] During pregnancy, sideroblastic anemia may present with recurrent flares of anemia, as documented in recent case reports.^[35]

Signs and Complications

Patients with sideroblastic anemia may exhibit splenomegaly due to extramedullary hematopoiesis, particularly in severe or chronic cases, and hepatomegaly from iron deposition in the liver.^[1] Bronze skin pigmentation can occur in chronic cases as a result of systemic iron overload.^[1] Tachycardia is a common physical sign reflecting the compensatory response to anemia.^[1] On physical examination, pallor is frequently observed due to reduced hemoglobin levels, while jaundice may arise from ineffective erythropoiesis and mild hemolysis.^[1] In syndromic congenital forms, such as X-linked sideroblastic anemia with ataxia, neurologic signs including truncal ataxia and delayed motor development are prominent, often manifesting in early childhood.^[36] Complications primarily stem from iron overload, mimicking hemochromatosis, which can lead to liver fibrosis and cirrhosis as well as cardiomyopathy from cardiac iron deposition.^[1] Repeated blood transfusions increase the risk of infections, particularly in transfusion-dependent patients.^[1] In clonal acquired forms, such as those associated with myelodysplastic syndrome, there is a 7-10% risk of progression to acute myeloid leukemia.^[1] Advanced effects of chronic iron overload include kidney damage and hypogonadism due to endocrine gland involvement.^[1] Recent assessments emphasize the use of cardiac MRI T2* to detect subclinical iron overload in the heart, even when serum ferritin levels do not suggest it, as highlighted in 2024 reviews of acquired sideroblastic anemias.^[37] Monitoring for organ involvement is recommended annually, including iron studies, liver function tests, and imaging such as MRI for cardiac and hepatic iron quantification to guide management of complications.^[1]

Diagnosis

Laboratory Findings

Laboratory findings in sideroblastic anemia typically reveal a pattern of anemia with evidence of iron overload, distinguishing it from other hypoproliferative anemias.^[32] A complete blood count (CBC) shows moderate to severe anemia, often microcytic and hypochromic, with hemoglobin levels ranging from 7 to 10 g/dL and mean corpuscular volume (MCV) of 60 to 80 fL in many cases.^[38] In acquired forms, the red blood cell population may appear dimorphic, reflecting a mix of hypochromic microcytes and normochromic cells, while congenital cases more consistently present as microcytic.^[2] The red cell distribution width (RDW) is usually elevated, indicating anisocytosis.^[32] Iron studies demonstrate iron overload despite the anemia: serum ferritin is markedly elevated, often exceeding 1000 ng/mL, and transferrin saturation is high, typically above 80%.^[38] Serum iron levels are normal to high, with total iron-binding capacity (TIBC) normal or low, contrasting sharply with iron deficiency anemia.^[2] On peripheral blood smear, hypochromic red blood cells predominate, often with basophilic stippling and Pappenheimer bodies—small iron granules visible as basophilic inclusions.^[38] Siderocytes, red cells containing iron deposits, may also be observed, supporting the diagnosis of ineffective erythropoiesis.^[1] Additional tests include elevated lactate dehydrogenase (LDH) levels, reflecting ineffective erythropoiesis and hemolysis.^[32] In cases suspected of pyridoxine (vitamin B6) deficiency, plasma levels of pyridoxal 5'-phosphate may be measured, as low values can guide therapeutic trials.^[38] The combination of anemia with this iron overload pattern on blood tests prompts further confirmatory evaluation, such as bone marrow examination, to identify ring sideroblasts.^[32]

Bone Marrow Examination and Imaging

Bone marrow examination remains the cornerstone for confirming sideroblastic anemia, particularly through aspirate and biopsy procedures that reveal characteristic morphological abnormalities. In bone marrow aspirates stained with Prussian blue, the defining feature is the presence of ring sideroblasts, which are nucleated erythroid precursors encircled by iron-laden mitochondria forming at least one-third of the nuclear circumference; a threshold of ≥15% ring sideroblasts is required for diagnosis in most cases.^[39] Biopsies often demonstrate erythroid hyperplasia, reflecting ineffective erythropoiesis, while in acquired forms such as those associated with myelodysplastic syndromes (MDS), dysplastic changes including megaloblastoid maturation and micromegakaryocytes are commonly observed.^[40] These findings distinguish sideroblastic anemia from other microcytic anemias, building on peripheral iron studies that suggest elevated ferritin and transferrin saturation.^[38] Flow cytometry on bone marrow samples aids in evaluating clonality and blast populations, which is crucial for subclassifying acquired sideroblastic anemia within MDS frameworks. It typically identifies aberrant antigen expression patterns, such as abnormal maturation of myeloid or erythroid lineages, and quantifies CD34+ blasts to assess progression risk toward acute myeloid leukemia.^[41] In MDS with ring sideroblasts (MDS-RS), flow cytometry supports the detection of immunophenotypic dysplasia, enhancing diagnostic specificity when morphology alone is equivocal.^[42] Advanced imaging modalities, particularly magnetic resonance imaging (MRI), play a key role in assessing systemic iron overload, a frequent complication of sideroblastic anemia due to chronic transfusions or ineffective erythropoiesis. Hepatic MRI using T2* or R2* techniques quantifies liver iron concentration (LIC), with values exceeding 7 mg/g dry weight indicating significant overload that warrants chelation therapy.^[43] Cardiac MRI similarly evaluates myocardial iron deposition, revealing T2* values below 20 ms in affected patients, and is essential for monitoring subclinical cardiac siderosis in long-term management.^[44] These non-invasive tools complement bone marrow findings by tracking iron distribution beyond the hematopoietic compartment.^[45] Molecular analysis integrated into bone marrow diagnostics refines classification, especially in distinguishing subtypes. Sequencing for SF3B1 mutations is recommended in MDS-RS, as these hotspot alterations in splicing factor 3B subunit 1 are present in over 80% of cases and correlate with ring sideroblast formation.^[46] For congenital sideroblastic anemia, next-generation sequencing (NGS) panels target genes like ALAS2, SLC25A38, and mitochondrial DNA, identifying causative variants in up to 50% of familial cases.^[4] According to the World Health Organization (WHO) 2022 (5th edition) classification, the diagnosis of myelodysplastic syndrome with low blasts and SF3B1 mutation (replacing MDS-RS) requires a pathogenic SF3B1 mutation and ≥15% ring sideroblasts, with <5% bone marrow blasts and <2% peripheral blood blasts, excluding cases with certain karyotypic abnormalities. Cases lacking SF3B1 mutation but with ≥15% ring sideroblasts are classified as MDS with ring sideroblasts if other criteria are met.^[47] This update emphasizes molecular integration for precise prognostication. Note that the International Consensus Classification (ICC) 2022 similarly defines MDS with mutated SF3B1 requiring SF3B1 mutation and ≥15% ring sideroblasts, with harmonized criteria to WHO for most cases.^[48] These criteria ensure differentiation from non-MDS entities like nutritional deficiencies, guiding targeted therapeutic decisions.^[47]

Treatment

Pharmacological and Targeted Therapies

Pyridoxine, a form of vitamin B6, serves as a first-line pharmacological therapy for sideroblastic anemia, particularly in cases linked to deficiencies in heme biosynthesis. Administered at doses of 50-200 mg per day, it activates 5'-aminolevulinate synthase 2 (ALAS2), the rate-limiting enzyme in heme production, thereby addressing the underlying metabolic defect.^[49] In congenital X-linked sideroblastic anemia (XLSA) due to ALAS2 mutations, pyridoxine responsiveness occurs in approximately 30-80% of patients, with hemoglobin improvements often evident within weeks through increased reticulocytosis and reduced ring sideroblasts.^[50] For acquired clonal forms, such as those in myelodysplastic syndromes (MDS), response rates are lower, around 10%, though higher doses may enhance efficacy in select cases.^[51] For specific etiologies like thiamine-responsive congenital sideroblastic anemia due to SLC19A2 mutations, high-dose thiamine (100-200 mg daily) can correct anemia and associated features. Similarly, secondary acquired cases due to copper deficiency respond to copper supplementation (2-4 mg elemental copper daily).^[1] Erythropoiesis-stimulating agents like luspatercept represent targeted therapies for anemia in ring sideroblast-positive MDS (MDS-RS), a common acquired sideroblastic anemia subtype. Approved by the FDA in 2023 as a first-line treatment for anemia in lower-risk MDS patients who may require transfusions, luspatercept traps TGF-β superfamily ligands to promote late-stage erythropoiesis and reduce ineffective hematopoiesis.^[52] Clinical trials demonstrated transfusion independence in about 50% of MDS-RS patients, with sustained hemoglobin increases lasting over a year in responders.^[53] Emerging evidence from 2023 case reports also suggests potential benefits in congenital forms, though further studies are needed.^[54] For specific etiologies, other agents target epigenetic or cytogenetic abnormalities. Low-dose decitabine, a hypomethylating agent, has shown promise in 2025 case reports for congenital sideroblastic anemia with NDUFB11 mutations, improving hemoglobin levels by reversing epigenetic silencing of heme pathway genes without significant toxicity.^[55] In MDS with del(5q), a subtype often featuring sideroblasts, lenalidomide induces transfusion independence in up to 76% of lower-risk patients by modulating the immune microenvironment and suppressing the 5q-deleted clone.^[56] Iron chelators such as deferasirox are used adjunctively to manage secondary iron overload from ineffective erythropoiesis, rather than as primary disease-modifying therapy. Dosed at 20-40 mg/kg per day orally, deferasirox effectively reduces serum ferritin levels in MDS and congenital cases, potentially enhancing pyridoxine responsiveness by alleviating iron-mediated suppression of heme synthesis.^[57] Long-term use maintains iron balance in transfusion-exposed patients, with gastrointestinal monitoring required due to side effects like renal impairment.^[44] Recent advances include preclinical gene therapy approaches for XLSA, with 2025 studies demonstrating lentiviral vectors that correct ALAS2 mutations in erythroid progenitors, restoring heme production and alleviating anemia in mouse models.^[58] These efforts highlight potential curative options, though clinical trials remain in early phases as of late 2025.

Supportive and Curative Interventions

Supportive care for sideroblastic anemia primarily involves red blood cell (RBC) transfusions to manage severe anemia and prevent complications from low hemoglobin levels. Transfusions are recommended for patients with symptomatic anemia or hemoglobin concentrations below 7-8 g/dL, as this threshold helps alleviate fatigue, shortness of breath, and cardiovascular strain while minimizing unnecessary exposure to transfusion risks.^[59]^[60] In transfusion-dependent cases, regular monitoring of transfusion frequency is essential, with thresholds typically set to maintain hemoglobin above 7 g/dL unless comorbidities necessitate a higher target of 8-10 g/dL.^[60] Iron overload, a common consequence of repeated transfusions or ineffective erythropoiesis, requires proactive management to avert organ damage such as cardiac dysfunction and hepatic fibrosis. For transfusion-dependent patients, iron chelation therapy is initiated after approximately 20-50 units of RBCs or when serum ferritin exceeds 1000-2500 ng/mL on multiple measurements, per recent guidelines for myelodysplastic syndromes (MDS)-related anemias.^[61]^[37] Deferasirox, an oral chelator, is the preferred first-line agent due to its efficacy in reducing hepatic and cardiac iron burden; deferoxamine is used subcutaneously for those intolerant to deferasirox.^[49]^[37] In non-transfusion-dependent patients with mild iron overload (serum ferritin 300-1000 ng/mL), therapeutic phlebotomy can be employed if hemoglobin levels permit, aiming to lower ferritin below 300 ng/mL and improve erythropoiesis in responsive cases.^[3]^[62] Nutritional interventions play a supportive role, particularly in pyridoxine-responsive forms of congenital sideroblastic anemia. Oral pyridoxine (vitamin B6) supplementation at 50-100 mg daily can partially or fully correct anemia in about two-thirds of X-linked cases by enhancing heme synthesis.^[1]^[63] Concurrent folate supplementation (1-5 mg daily) is advisable to support increased erythropoietic demands during response to pyridoxine, preventing secondary deficiencies.^[49]^[64] Ongoing monitoring is critical to guide these interventions, including regular assessment of hemoglobin to determine transfusion needs and serial serum ferritin measurements to evaluate iron status. According to 2024 MDS guidelines, chelation should begin in patients with expected survival over 1-2 years and evidence of overload after 20-50 transfusions, with MRI for cardiac and liver iron quantification in high-risk cases.^[37]^[44] Curative options focus on allogeneic hematopoietic stem cell transplantation (HSCT), which offers potential eradication of the underlying defect in select patients. HSCT is recommended for young individuals with congenital sideroblastic anemia or high-risk MDS-associated forms, using reduced-intensity conditioning to minimize toxicity.^[49] In pediatric cases, success rates reach 70-90%, with overall survival exceeding 80% in matched donor transplants when performed early.^[65]^[66]

Prognosis

Short-Term Outcomes

In pyridoxine-responsive sideroblastic anemia, particularly the X-linked form, patients typically exhibit hematologic improvement with high-dose vitamin B6 therapy, often marked by reduced transfusion requirements.^[1] Approximately two-thirds of such cases show partial or complete correction of anemia with daily doses of 50-100 mg pyridoxine, though responsiveness may be enhanced by concurrent iron depletion to mitigate overload effects.^[12] In non-responsive cases, transfusion dependence generally persists despite supplementation, necessitating ongoing supportive care.^[1] Acquired reversible sideroblastic anemia, often triggered by alcohol, drugs like isoniazid, or nutritional deficiencies, demonstrates recovery following prompt removal of the inciting factor, such as drug cessation or alcohol abstinence.^[28] For instance, in alcohol-induced cases, ring sideroblasts resolve in days to weeks after cessation, with full anemia recovery occurring over subsequent months, particularly if folate status is addressed.^[28] Copper or pyridoxine deficiency-related forms similarly revert, with ring sideroblasts normalizing within 2 months of targeted supplementation.^[28] In clonal sideroblastic anemias, such as those associated with myelodysplastic syndromes with ring sideroblasts (MDS-RS), erythropoiesis-stimulating agents like erythropoietin yield partial responses in 30-40% of lower-risk patients, often manifesting as decreased transfusion needs and hemoglobin stabilization.^[17] Median transfusion-free survival in these low-risk MDS-RS cases extends 2-3 years with such therapy, though overall response rates to erythropoietin range from 30-60% depending on baseline erythropoietin levels and SF3B1 mutation status.^[17]^[1] Pediatric congenital sideroblastic anemias, including X-linked and autosomal forms, show response to pyridoxine therapy in approximately two-thirds of X-linked cases (ALAS2-mutated), reducing transfusion dependence, while hematopoietic stem cell transplantation may achieve remission based on limited reports.^[12] Early intervention with these modalities often leads to sustained hemoglobin normalization and prevention of early iron overload in children.^[1] Early diagnosis emerges as a key factor enhancing short-term hemoglobin stabilization across sideroblastic anemia subtypes, enabling timely initiation of targeted interventions like pyridoxine or trigger removal to avert rapid progression to severe anemia or overload.^[1]^[28]

Long-Term Risks and Management

In clonal forms of sideroblastic anemia associated with myelodysplastic syndromes with ring sideroblasts (MDS-RS) and SF3B1 mutations, the risk of leukemic transformation to acute myeloid leukemia is relatively low, ranging from 5-10% over 10 years in patients with normal karyotype and no transfusion dependence.^[67] Median overall survival in adults with these low-risk subtypes typically spans 5-10 years, influenced by factors such as multilineage dysplasia and blast counts.^[17] Chronic complications primarily arise from progressive iron overload due to ineffective erythropoiesis and frequent transfusions, leading to organ damage including hepatic cirrhosis, cardiomyopathy, and heart failure.^[1] In non-responsive congenital sideroblastic anemias, such as certain autosomal recessive forms, life expectancy can be reduced if iron overload is inadequately managed, though outcomes vary by genotype and access to care.^[68] Long-term management emphasizes lifelong iron chelation therapy with agents like deferasirox or deferoxamine to mitigate overload, alongside annual magnetic resonance imaging (MRI) of the liver and heart to monitor iron levels and guide therapy adjustments.^[49] For congenital cases, genetic counseling is essential to identify inheritance patterns, inform family planning, and tailor personalized monitoring.^[49] Outcomes differ by subtype: pyridoxine (vitamin B6)-responsive congenital sideroblastic anemias, particularly X-linked forms, often achieve near-normal lifespan with early supplementation and chelation.^[1] In contrast, reversible acquired sideroblastic anemias have favorable long-term outcomes, while low-risk MDS-associated cases have median survival of 5-10 years.^[69] Emerging 2025 advancements in gene therapy for X-linked sideroblastic anemia (XLSA) show preclinical promise, using lentiviral vectors to restore ALAS2 function and reverse anemia and iron dysregulation, potentially transforming long-term prognosis beyond conventional therapies.^[70]^[58]

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Sep 19, 2025 · X-linked sideroblastic anemia belongs to a group of disorders that are characterized by a shortage of healthy red blood cells (anemia).
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A natural history of lower-risk myelodysplastic syndromes with ring ...
Anemia is the predominant cytopenia and a known cardiovascular risk factor in MDS [Citation5]. The estimated incidence of MDS is ∼15.5 new cases per 100 000 ...
[7]
Diagnostics and Prognostication of Myelodysplastic Syndromes - PMC
Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and ...Missing: prevalence | Show results with:prevalence
[8]
Sideroblastic Anemias: Practice Essentials, Pathophysiology, Etiology
Aug 27, 2024 · Sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders characterized by pathological iron accumulation in the mitochondria of ...
[9]
Sideroblastic anemia in children: challenges in diagnosis and ... - NIH
Mar 5, 2025 · Sideroblastic anemias constitute a rare and heterogeneous group of disorders characterized by iron accumulation in mitochondria of erythroblasts ...Missing: definition | Show results with:definition
[10]
Comprehensive Genomic Analysis Identifies a Diverse Landscape ...
Comprehensive genomic testing revealed pathogenic variants in 23 of 41 cases (56%). Congenital sideroblastic anemia was the most common diagnosis (14/23; 61%).
[11]
Understanding Rare Anemias: Emerging Frontiers for Diagnosis and ...
This review provides a comprehensive overview of rare anemias, emphasizing their hereditary and acquired causes, diagnostic advancements, and evolving ...
[12]
Understanding Sideroblastic Anemia: An Overview of Genetics ...
Sep 25, 2020 · The treatment of SA depends on the underlying etiology but remains primarily supportive with vitamin B6 supplementation for select cases of XLSA ...
[13]
The molecular genetics of sideroblastic anemia - PMC - NIH
The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of ...
[14]
novel ALAS2 mutations and the impact of X-chromosome inactivation
Apr 7, 2025 · Despite XLSA being an X-linked recessive disorder, women can also develop the condition. This occurs due to skewed X-chromosome inactivation in ...
[15]
Myelodysplastic syndromes with ring sideroblasts (MDS‐RS) and ...
Jan 11, 2021 · Affected individuals usually have a microcytic hypochromic anemia and then eventually go on to develop signs and symptoms of iron overload ( ...Abstract · DISEASE OVERVIEW
[16]
Diagnosis and classification of myelodysplastic syndrome
Nov 1, 2008 · The Working Group defined three types of sideroblast: Type 1 sideroblasts: fewer than 5 siderotic granules in the cytoplasm; Type 2 sideroblasts ...
[17]
Prognostic impact of <i>SF3B1</i> mutation and multilineage ...
Mar 7, 2024 · Most cases of MDS-RS are associated with an SF3B1 mutation, which is now considered a characteristic feature of the disease in whose presence ...
[18]
Clinical and genetic characteristics of congenital sideroblastic anemia
Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, ...Missing: symptoms | Show results with:symptoms
[19]
Systematic Molecular Genetic Analysis of Congenital Sideroblastic ...
... ALAS2, SLC25A38, PUS1, GLRX5 ... Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
[20]
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase ...
Jan 7, 2019 · Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the ...
[21]
Apparent recessive inheritance of sideroblastic anemia type 2 due to ...
Point mutations in the ALAS2, SLC25A38, GLRX5, and HSPA9 genes have been reported for the nonsyndromic SA. Point mutations in the ABCB7, PUS1, YARS2, LARS2, ...
[22]
Acquired and hereditary bone marrow failure: A mitochondrial ...
Nov 2, 2022 · Mutations in genes related to heme synthesis are drivers of MDS-RS. Mutation in ALAS2 reduces protoporphyrin causing an accumulation of iron ...
[23]
Update on heme biosynthesis, tissue-specific regulation, heme ... - NIH
Jun 18, 2024 · Mutations that decrease levels/activities of ALAS2 give rise to X-linked sideroblastic anemias with iron overload in the mitochondria of ...
[24]
Comprehensive Genomic Analysis Identifies a Diverse Landscape ...
Comprehensive genomic testing revealed pathogenic variants in 23 of 41 cases (56%). Congenital sideroblastic anemia was the most common diagnosis (14/23; 61%).
[25]
Pearson syndrome: a multisystem mitochondrial disease with bone ...
Oct 17, 2022 · Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs).
[26]
Causes and Pathophysiology of Acquired Sideroblastic Anemia - PMC
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the ...
[27]
Acquired Sideroblastic Anemia: An Exploratory Comparative ... - NIH
SA is a rare disease affecting fewer than 200,000 people in the US. Due to the low incidence and prevalence and the heterogeneity of the causative factors, no ...
[28]
Sideroblastic Anemia: Causes, Symptoms & Treatment
May 5, 2022 · Sideroblastic anemia (SA) is a rare blood disorder that affects how your body produces red blood cells. SA causes anemia and iron overload.
[29]
Sideroblastic Anemias Clinical Presentation - Medscape Reference
Aug 27, 2024 · Any complication of anemia in general, such as bleeding, high-output heart failure, significant fatigue, and weight loss, may be seen in sideroblastic anemias.
[30]
Sideroblastic anemias: Diagnosis and management - UpToDate
Jun 10, 2024 · The sideroblastic anemias comprise a wide spectrum of relatively uncommon heritable and acquired erythropoietic disorders that are due to ...<|separator|>
[31]
Congenital Sideroblastic Anemia | Boston Children's Hospital
Congenital sideroblastic anemia (CSA) occurs when the bone marrow fails to produce a sufficient number of healthy red blood cells.
[32]
A novel syndrome of congenital sideroblastic anemia, B-cell ...
We describe a novel syndromic form of early onset, severe CSA associated with B immunodeficiency, periodic fevers, and developmental delay. Additional features ...
[33]
Recurrent sideroblastic anemia during pregnancy - PMC - NIH
Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐year‐old female patient, gravida 4 para 3, 27th weeks pregnant, who presented to the ...
[34]
X-linked sideroblastic anemia and ataxia: MedlinePlus Genetics
Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin , which is the protein that carries oxygen in ...
[35]
Iron overload in acquired sideroblastic anemias and MDS
Dec 6, 2024 · Besides transfusion therapy, ineffective erythropoiesis contributes to systemic iron overload in myelodysplastic syndromes with ring sideroblasts (MDS-RS).Abstract · Acquired sideroblastic anemias · Pathophysiology of anemia...
[36]
Sideroblastic Anemias Workup - Medscape Reference
Aug 27, 2024 · In patients with sideroblastic anemia, the CBC usually reveals moderate anemia, although severe anemia has been reported.
[37]
Sideroblastic changes of the bone marrow can be predicted by the ...
The presence of ring sideroblasts (RS) in the bone marrow aspiration is the hallmark for hereditary and acquired sideroblastic anemia. Sideroblasts are visible ...
[38]
Sideroblastic Anemia | Treatment & Management | Point of Care
Dec 11, 2024 · [26] Prussian blue staining of the bone marrow aspirate smear will show the typical ring sideroblasts when viewed under the microscope (see ...
[39]
Flow Cytometry in the Diagnosis of Myelodysplastic Syndromes - PMC
This way flow cytometry is indicated as a useful tool in cases where an unequivocal MDS diagnosis cannot be established on the basis of clinical data, ...
[40]
The Use of Flow Cytometry in Myelodysplastic Syndromes: A Review
Nov 14, 2017 · Here, we review the current literature and discuss the main parameters that should be analyzed by flow cytometry with the aim of refining MDS diagnosis and ...
[41]
Liver Iron Quantification with MR Imaging: A Primer for Radiologists
Mar 12, 2018 · This review describes MR imaging techniques for liver iron quantification and provides an overview of common causes, complications, and treatments of liver ...
[42]
Iron overload in acquired sideroblastic anemias and MDS - NIH
Dec 6, 2024 · Reversible causes of SA include heavy metal poisoning (lead or arsenic), zinc overdose, copper deficiency, vitamin B6 deficiency, and alcohol ...Missing: nutritional | Show results with:nutritional
[43]
Assessment of liver and cardiac iron overload using MRI in patients ...
Apr 17, 2018 · Liver iron overload was observed in 76.4% of patients, while cardiac iron overload was seen in 19.2% when assessed by MRI. The prevalence of ...
[44]
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Sep 26, 2011 · Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes.
[45]
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 ...
Mar 29, 2024 · Of these, we identified 39 evaluable patients as having lower-risk MDS with SF3B1 mutations: there were 20 (51.3%) males and 19 (48.7%) females, ...
[46]
Diagnosis and classification of myelodysplastic syndromes | Blood
Dec 28, 2023 · Clinical suspicion for MDS typically arises when there is unexplained anemia or, less commonly, another cytopenia, bicytopenia, or pancytopenia.
[47]
Sideroblastic Anemias Treatment & Management
Aug 27, 2024 · Severity of iron overload is best assessed by T2-weighted MRI or liver biopsy. One should consider treatment of underlying iron overload ...
[48]
Sideroblastic anemia in children: challenges in diagnosis and ...
Mar 5, 2025 · The incidence of myeloid neoplasms with ring sideroblasts is exceptional in children, and the long-term prognosis remains undefined. Similar ...<|separator|>
[49]
Pyridoxine impact on patients with myelodysplastic syndromes with ...
May 26, 2019 · Pyridoxine (Vit B6) replacement may improve anemia found in sideroblastic anemia. The study was to determine how frequently Vit B6 was ...
[50]
U.S. FDA Approves Bristol Myers Squibb's Reblozyl® (luspatercept ...
Aug 28, 2023 · Reblozyl is the first and only therapy to demonstrate superiority compared to an erythropoiesis stimulating agent (ESA) in MDS-related anemia.
[51]
FDA Approves Luspatercept as First-Line Anemia Treatment ... - AJMC
Aug 29, 2023 · The FDA has approved an expanded indication for luspatercept (Reblozyl) for the first-line treatment of anemia in patients with low-risk MDS who may require ...
[52]
Role of Luspatercept in the Management of Lower-Risk ... - NIH
Feb 1, 2023 · The recent approval of luspatercept for the treatment of anemia associated with very low-to intermediate-risk MDS with ring sideroblasts (RS) or ...
[53]
Successful Treatment of Congenital Sideroblastic Anemia with Low ...
Sep 9, 2025 · Congenital sideroblastic anemias (CSAs) are an inherited group of blood disorders due to defects of mitochondrial proteins.Sample Processing And Dna... · Treatment Intervention And... · DiscussionMissing: underdiagnosis | Show results with:underdiagnosis<|separator|>
[54]
Lenalidomide in the Myelodysplastic Syndrome with Chromosome ...
Oct 5, 2006 · We conclude that lenalidomide is effective in lower-risk, transfusion-dependent patients with the myelodysplastic syndrome and a 5q deletion.
[55]
Iron chelation: Choice of agent, dosing, and adverse effects
May 28, 2025 · Iron chelation is used to remove excess iron from the body in individuals who cannot undergo phlebotomy. There are many challenges to therapy, ...
[56]
XLSA breakthrough: gene therapy potential | Blood - ASH Publications
Jan 2, 2025 · The authors indicate the potential effectiveness of gene therapy for XLSA. Sideroblastic anemia is a group of congenital and acquired disorders.
[57]
Understanding Sideroblastic Anemia: An Overview of Genetics ...
Sep 25, 2020 · Next-generation sequencing for acquired mutations in MDS or inherited mutations ... SF3B1 mutation identifies a distinct subset of ...
[58]
For an 87-year-old patient with chronic anemia, myelodysplastic ...
Oct 9, 2025 · Administer transfusions at hemoglobin threshold of at least 8 g/dL, or 9-10 g/dL in case of comorbidities or poor functional tolerance 1 ...
[59]
Transfusion Iron Overload - StatPearls - NCBI Bookshelf
Feb 12, 2024 · The current standard is to begin chelation therapy after 1 to 2 years of consistent or 15 to 20 transfusions. Patients with serum ferritin ...
[60]
Initial Serum Ferritin Predicts Number of Therapeutic Phlebotomies ...
Phlebotomy goal was a serum ferritin < 300 mcg/L, regardless of gender, based on data in patients with thalassemia and transfusional siderosis. In some patients ...
[61]
Pyridoxine: beyond a cofactor of ALAS | Blood - ASH Publications
Sep 26, 2024 · In approximately two-thirds of patients with XLSA, anemia is partially or completely corrected by pyridoxine.
[62]
X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr ...
Mar 10, 1994 · Therapy was begun with pyridoxine (300 mg per day) and folic acid (5 mg per day); the patient's hemoglobin level increased to 14.9 g per ...
[63]
Allogeneic hematopoietic stem cell transplantation in a case of ...
Jan 31, 2024 · Since 1992, eleven cases of CSA treated with allo-HSCT have been reported4-7,18-20. Of the eleven cases, eight patients achieved successful ...
[64]
Reduced Toxicity Allogeneic Transplant for Congenital Sideroblastic ...
Allogeneic SCT using reduced toxicity conditioning regimen can be a curative therapy for severe forms of CSA. As the genetic knowledge of CSA continues to ...
[65]
Acquired idiopathic sideroblastic anemia - Orphanet
A rare myelodysplastic syndrome (MDS) characterized by ineffective ... Prevalence: 1-9 / 100 000. Inheritance: Not applicable. Age of onset: Adult. ICD-10 ...
[66]
Congenital Sideroblastic Anemias: Iron and Heme Lost in ...
Dec 10, 2011 · Furthermore, the incidence of CSA in affected pedigrees was approximately equal in males and females, and there was no apparent phenotype in ...Missing: prevalence | Show results with:prevalence
[67]
Refractory Anemia with Ringed Sideroblasts - ScienceDirect.com
The overall 5-year survival rate approaches 40%. Based on decision analysis and limited data from randomized trials , the best timing for allogeneic HSCT is ...
[68]
First of Its Kind Gene Therapy Model Offers Hope for X-Linked ...
Jan 2, 2025 · A first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia.