Approach Considerations

The workup for sideroblastic anemia may include the following:

Complete blood count (CBC)
Peripheral smear,
Iron studies (eg, ferritin and total iron-binding capacity [TIBC])
Bone marrow aspiration and biopsy
Other studies as appropriate
Various forms of genetic testing and genotyping

Complete Blood Cell Count and Peripheral Smear

In patients with sideroblastic anemia, the CBC usually reveals anemia, mostly moderate, although severe anemia has been reported.^[66]The mean corpuscular volume (MCV) is usually low, with a microcytic picture; however, normocytic, macrocytic,^[67]and classic dimorphic (normocytic + microcytic)^[68]smears are not uncommon.

Normochromic vs hypochromic red blood cell (RBC).

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Siderocytes with Pappenheimer bodies (hypochromic erythrocytes with basophilic iron deposits) are sideroblasts that have matured enough to make it to peripheral blood.

Pappenheimer bodies seen on giemsa stain.

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Dimorphic anemia is not specific for sideroblastic anemia and is also seen in combined vitamin B-12 deficiency with iron deficiency and after blood transfusions.^[69]Other cell lines may be undisturbed in pure sideroblastic anemia, but in sideroblastic anemia that is associated with myelodysplastic syndrome (MDS), leukopenia, thrombocytopenia, or even thrombocytosis may be observed.

The peripheral smear may exhibit basophilic stippling in cases of lead poisoning.^[70]

Basophilic stippling in lead poisoning.

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Iron and Other Laboratory Studies

Iron studies may show increased an iron level with decreased TIBC (see the image below) . A very low ferritin level strongly favors iron deficiency as the primary cause of anemia. In fact, iron deficiency may mask underlying sideroblastic anemia as hypochromic anemia, with the appearance of sideroblasts in bone marrow once the iron stores are replenished.^[71]Periodic iron studies are essential even for those who are not transfusion dependent.

Serum lead, alcohol, γ-glutamyltransferase (GGT), copper, and zinc levels can be measured. Surrogates for vitamin B-6 that can be measured in plasma include pyridoxal 5′ phosphate (PLP) and 4-pyridoxic acid (4-PA).^[72]4-PA can also be measured in urine.

Additional Tests

Magnetic resonance imaging (MRI) of the posterior cranial fossa is indicated in anemia-ataxia syndromes to rule out primary cerebellar pathology such as space-occupying lesions.

In congenital or suspected congenital anemias, determination of the exact mutation type (eg, ABC7) may provide useful information for the physician and the family members of affected patients, even if it may not affect immediate patient management. This can be accomplished by means of polymerase chain reaction (PCR) evaluation.

A urine porphyrin profile may reveal erythropoietic porphyria.

Bone Marrow Aspiration and Biopsy

Usually, when a physician is faced with the diagnosis of sideroblastic anemia, bone marrow aspiration and biopsy has already been done. Attention should be paid to other cell lines (ie, megakaryocytes, myelocytes) because MDS is a part of the differential diagnosis (see Differentials). If iron deficiency anemia is of unclear etiology and fails to respond to iron replacement during the workup, bone marrow aspiration and biopsy should be included in the workup.

Patients initially presenting with hypochromic anemia may end up receiving iron supplements if a bone-marrow biopsy is not performed and thus develop iron overload.

It is important to obtain cytogenetic studies on the bone marrow aspirate samples, as quite often this may be the only way confirm a myelodysplastic syndrome.

Histologic Findings

In the revised WHO classification, if an SF3B1 mutation is identified, a diagnosis of MDS-RS may be made if ring sideroblasts comprise as few as 5% of nucleated erythroid cells, whereas at least 15% ring sideroblasts are required in cases lacking a demonstrable SF3B1 mutation.^[4]

The WHO criteria for MDS/MPN-RS-T include thrombocytosis (≥450 × 10⁹/L) associated with refractory anemia, dyserythropoiesis in the bone marrow with ring sideroblasts accounting for 15% or more of erythroid precursors, and megakaryocytes with features resembling those in primary myelofibrosis (PMF) or essential thrombocythemia (ET).Unlike MDS-RS the number of ring sideroblasts required for a diagnosis of MDS/MPN-RS-T is not altered by the presence or absence of a mutation in SF3B1.^[4]

Treatment & Management

Fouquet C, Le Rouzic MA, Leblanc T, et al. Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort. Br J Haematol. 2019 Jul 23. [Medline].
Gao J, Zhou Q, Wu D, Chen L. Mitochondrial iron metabolism and its role in diseases. Clin Chim Acta. 2021 Feb. 513:6-12. [Medline].
Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, et al. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood. 2016 Oct 13. 128 (15):1913-1917. [Medline]. [Full Text].
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19. 127 (20):2391-405. [Medline]. [Full Text].
Harris JW. X-linked, pyridoxine-responsive sideroblastic anemia. N Engl J Med. 1994 Mar 10. 330(10):709-11. [Medline].
Takeda Y, Sawada H, Tashima M, Okuma M, Kondo M. Erythropoietic protoporphyria without cutaneous photosensitivity and with ringed sideroblasts in an atomic bomb survivor. Lancet. 1996 Feb 10. 347(8998):395-6. [Medline].
Rademakers LH, Koningsberger JC, Sorber CW, et al. Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest. 1993 Feb. 23(2):130-8. [Medline].
Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, et al. Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). Ann Hematol. 2013 Jan. 92(1):1-9. [Medline]. [Full Text].
Cotter PD, Baumann M, Bishop DF. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A. 1992 May 1. 89(9):4028-32. [Medline]. [Full Text].
Harigae H, Furuyama K. Hereditary sideroblastic anemia: pathophysiology and gene mutations. Int J Hematol. 2010 Oct. 92(3):425-31. [Medline].
Csere P, Lill R, Kispal G. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS Lett. 1998 Dec 18. 441(2):266-70. [Medline].
Shimada Y, Okuno S, Kawai A, et al. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. 1998. 43(2):115-22. [Medline].
Pagon RA, Bird TD, Detter JC, Pierce I. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet. 1985 Aug. 22(4):267-73. [Medline]. [Full Text].
Zeharia A, Fischel-Ghodsian N, Casas K, et al. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol. 2005 May. 20(5):449-52. [Medline].
Bottomley SS. Sideroblastic anemias. Lee GR, Foerster J, Lukens J, et al, eds. Wintrobe's Clinical Hematology. 10th ed. Baltimore, Md: Lippincott, Williams & Wilkins; 1999. Vol 1: 1022-46.
Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979 Dec. 95(6):976-84. [Medline].
O'Grady MJ, Monavari AA, Cotter M, Murphy NP. Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion. BMJ Case Rep. 2015 Feb 26. 2015:[Medline].
Miki H, Kuwayama Y, Hara T, et al. [Copper deficiency with pancytopenia, bradycardia and neurologic symptoms] [Japanese]. Rinsho Ketsueki. 2007 Mar. 48(3):212-6. [Medline].
Niel O, Thouret MC, Bérard E. Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss. Blood. 2011 Jun 2. 117(22):6054-5. [Medline].
Prodan CI, Bottomley SS, Vincent AS, Cowan LD, Greenwood-Van Meerveld B, Holland NR, et al. Copper deficiency after gastric surgery: a reason for caution. Am J Med Sci. 2009 Apr. 337(4):256-8. [Medline].
Willis MS, Monaghan SA, Miller ML, et al. Zinc-induced copper deficiency: a report of three cases initially recognized on bone marrow examination. Am J Clin Pathol. 2005 Jan. 123(1):125-31. [Medline].
Gregg XT, Reddy V, Prchal JT. Copper deficiency masquerading as myelodysplastic syndrome. Blood. 2002 Aug 15. 100(4):1493-5. [Medline]. [Full Text].
Kumar N, Elliott MA, Hoyer JD, et al. "Myelodysplasia," myeloneuropathy, and copper deficiency. Mayo Clin Proc. 2005 Jul. 80(7):943-6. [Medline].
Champe PC, Harvey RA. Conversion of amino acids to specialized products. Biochemistry. 2nd ed. Philadelphia, Pa: JB Lippincott Co; 1994. 259.
Lubran MM. Lead toxicity and heme biosynthesis. Ann Clin Lab Sci. 1980 Sep-Oct. 10(5):402-13. [Medline].
Scharf RE, Aul C. [Alcohol-induced disorders of the hematopoietic system] [German]. Z Gastroenterol. 1988 Oct. 26 suppl 3:75-83. [Medline].
Homann C, Hasselbalch HC. [Hematological abnormalities in alcoholism] [Danish]. Ugeskr Laeger. 1992 Aug 3. 154(32):2184-7. [Medline].
Conso F, Tulliez M, Fauvarques MO, Nenna AD. [Sideroblastic anemia, lead poisoning and wine from Bordeaux] [French]. Ann Med Interne (Paris). 1984. 135(1):43-5. [Medline].
McColl KE, Moore MR, Thompson GG, Goldberg A. Abnormal haem biosynthesis in chronic alcoholics. Eur J Clin Invest. 1981 Dec. 11(6):461-8. [Medline].
Del Favero H, Grebe G, Lira P, Mezzano D. [Chloramphenicol induced sideroblastic anemia (author's transl)] [Spanish]. Rev Med Chil. 1977 Jun. 105(6):384-7. [Medline].
Vial T, Grignon M, Daumont M, et al. Sideroblastic anaemia during fusidic acid treatment. Eur J Haematol. 2004 May. 72(5):358-60. [Medline].
Montpetit MC, Shammo JL, Loew J, et al. Sideroblastic anemia due to linezolid in a patient with a left ventricular assist device. J Heart Lung Transplant. 2004 Sep. 23(9):1119-22. [Medline].
Rudek MA, Horne M, Figg WD, et al. Reversible sideroblastic anemia associated with the tetracycline analogue COL-3. Am J Hematol. 2001 May. 67(1):51-3. [Medline].
Yoshimoto S, Takeuchi M, Tada A. [Secondary sideroblastic anemia caused by long term administration of anti-tuberculous agents including isoniazid] [Japanese]. Rinsho Ketsueki. 1992 Jul. 33(7):986-90. [Medline].
Brodsky RA, Hasegawa S, Fibach E, et al. Acquired sideroblastic anaemia following progesterone therapy. Br J Haematol. 1994 Aug. 87(4):859-62. [Medline].
Popovic K, Stanulovic D, Stanulovic M. Sideroblastic anemia in chronic phenacetin misuse. Clin Toxicol. 1973. 6(4):585-98. [Medline].
Kandola L, Swannell AJ, Hunter A. Acquired sideroblastic anaemia associated with penicillamine therapy for rheumatoid arthritis. Ann Rheum Dis. 1995 Jun. 54(6):529-30. [Medline]. [Full Text].
Perry AR, Pagliuca A, Fitzsimons EJ, Mufti GJ, Williams R. Acquired sideroblastic anaemia induced by a copper-chelating agent. Int J Hematol. 1996 Jul. 64(1):69-72. [Medline].
Magalhães SM, Duarte FB, Ribeiro SC, Borovik CL, Lorand-Metze I. Sideroblastic anemia following treatment of chronic myeloid leukemia with busulfan. Leukemia. 2000 Jan. 14(1):214-5. [Medline].
O'Brien H, Amess JA, Mollin DL. Recurrent thrombocytopenia, erythroid hypoplasia and sideroblastic anaemia associated with hypothermia. Br J Haematol. 1982 Jul. 51(3):451-6. [Medline].
Patnaik MM, Tefferi A. Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017 Mar. 92 (3):297-310. [Medline]. [Full Text].
Cazzola M, Rossi M, Malcovati L. Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood. 2013 Jan 10. 121(2):260-9. [Medline].
Patnaik MM, Lasho TL, Hodnefield JM, Knudson RA, Ketterling RP, Garcia-Manero G, et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood. 2012 Jan 12. 119(2):569-72. [Medline].
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Myelodysplastic syndromes. v2. 2018. NCCN.org. Available at http://www.nccn.org/professionals/physician_gls/PDF/mds.pdf. February 15, 2018; Accessed: April 4, 2018.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun. 41(6):651-3. [Medline].
Rouault TA, Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends Genet. 2008 Aug. 24(8):398-407. [Medline]. [Full Text].
Li G, Hilliard LM. Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. Blood. 2017 Feb 23. 129 (8):1057. [Medline]. [Full Text].
Manimaran P, Subramanian VS, Karthi S, Gandhimathi K, Varalakshmi P, Ganesh R, et al. Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. Clin Chim Acta. 2016 Jan 15. 452:44-9. [Medline].
Furuyama K, Kaneko K. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. Int J Hematol. 2018 Jan. 107 (1):44-54. [Medline].
Smith OP, Hann IM, Woodward CE, Brockington M. Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA. Br J Haematol. 1995 Jun. 90 (2):469-72. [Medline].
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, et al. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clin Genet. 2017 Mar. 91 (3):441-447. [Medline].
Farhi DC, Luebbers EL, Rosenthal NS. Bone marrow biopsy findings in childhood anemia: prevalence of transient erythroblastopenia of childhood. Arch Pathol Lab Med. 1998 Jul. 122(7):638-41. [Medline].
Juneja SK, Imbert M, Sigaux F, Jouault H, Sultan C. Prevalence and distribution of ringed sideroblasts in primary myelodysplastic syndromes. J Clin Pathol. 1983 May. 36(5):566-9. [Medline]. [Full Text].
Bain BJ. The bone marrow aspirate of healthy subjects. Br J Haematol. 1996 Jul. 94(1):206-9. [Medline].
Cortesão E, Vidan J, Pereira J, et al. Onset of X-linked sideroblastic anemia in the fourth decade. Haematologica. 2004 Oct. 89(10):1261-3. [Medline]. [Full Text].
Furuyama K, Harigae H, Kinoshita C, et al. Late-onset X-linked sideroblastic anemia following hemodialysis. Blood. 2003 Jun 1. 101(11):4623-4. [Medline]. [Full Text].
Hadnagy C. Primary acquired sideroblastic anemia and myelodysplastic syndrome from a geriatric point of view. Z Gerontol. 1991 Mar-Apr. 24(2):105-9. [Medline].
Impey L, Greenwood C, Taylor A, Redman C, Wainscoat J. Recurrent acquired sideroblastic anemia in a twin pregnancy. J Matern Fetal Med. 2000 Jul-Aug. 9(4):248-9. [Medline].
Linker CA. Blood. McPhee SJ, Papadakis MA, Tierney LM, eds. Current Medical Diagnosis and Treatment. 45th ed. New York, NY: McGraw Hill; 2006. 486.
Garand R, Gardais J, Bizet M, et al. Heterogeneity of acquired idiopathic sideroblastic anaemia (AISA). Leuk Res. 1992. 16(5):463-8. [Medline].
Cheng DS, Kushner JP, Wintrobe MM. Idiopathic refractory sideroblastic anemia: incidence and risk factors for leukemic transformation. Cancer. 1979 Aug. 44(2):724-31. [Medline].
Cazzola M, Barosi G, Gobbi PG, et al. Natural history of idiopathic refractory sideroblastic anemia. Blood. 1988 Feb. 71(2):305-12. [Medline]. [Full Text].
May A, Fitzsimons E. Sideroblastic anaemia. Baillieres Clin Haematol. 1994 Dec. 7(4):851-79. [Medline].
Kumar A, Jazieh AR. Case report of sideroblastic anemia caused by ingestion of coins. Am J Hematol. 2001 Feb. 66(2):126-9. [Medline].
Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Semin Hematol. 2009 Oct. 46 (4):371-7. [Medline].
Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock BE, al-Sabah AI, et al. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest. 1995 Oct. 96(4):2090-6. [Medline]. [Full Text].
Gattermann N, Retzlaff S, Wang YL, et al. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood. 1997 Dec 15. 90(12):4961-72. [Medline]. [Full Text].
Tuckfield A, Ratnaike S, Hussein S, Metz J. A novel form of hereditary sideroblastic anaemia with macrocytosis. Br J Haematol. 1997 May. 97(2):279-85. [Medline].
Dorland's Illustrated Medical Dictionary. 30th ed. Philadelphia, Pa: WB Saunders; 2004.
Lazarchick J. Basophilic stippling - lead poisoning. American Society of Hematology (ASH) image bank. Available at https://imagebank.hematology.org/image/2632/basophilic-stippling--lead-poisoning--1?type=upload. June 1, 2004; Accessed: April 4, 2018.
Stavem P, Rørvik TO, Rootwelt K, Josefsen JO. Severe iron deficiency causing loss of ring sideroblasts. Scand J Haematol. 1983 Oct. 31(4):389-91. [Medline].
Bisp MR, Bor MV, Heinsvig EM, Kall MA, Nexø E. Determination of vitamin B6 vitamers and pyridoxic acid in plasma: development and evaluation of a high-performance liquid chromatographic assay. Anal Biochem. 2002 Jun 1. 305(1):82-9. [Medline].
Mason DY, Emerson PM. Primary acquired sideroblastic anaemia: response to treatment with pyridoxal-5-phosphate. Br Med J. 1973 Feb 17. 1(5850):389-90. [Medline]. [Full Text].
Sztern B, de Saint-Georges A, Telerman A, Lustman F. [Major sideroblastosis corrected by simple administration of folates] [French]. Presse Med. 1984 Jul 14-21. 13(29):1789. [Medline].
Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, et al. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. J Pediatr. 2009 Dec. 155 (6):888-892.e1. [Medline].
Fernández-Murray JP, Prykhozhij SV, Dufay JN, Steele SL, Gaston D, Nasrallah GK, et al. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. PLoS Genet. 2016 Jan 28. 12 (1):e1005783. [Medline]. [Full Text].
Abadia R, Rochant H, Levy VG. [Hemochromatotic cirrhosis complicating pyridoxine-sensitive hereditary sideroblastic anemia. Case report] [French]. Ann Med Interne (Paris). 1983. 134(4):327-32. [Medline].
Bottomley SS. Sideroblastic anemia: death from iron overload. Hosp Pract (Off Ed). 1991 Apr. 26 Suppl 3:55-6. [Medline].
Volin L. Haem arginate treatment for hereditary sideroblastic anaemia. Eur J Haematol. 1989 Jan. 42(1):60-6. [Medline].
Ljung T, Bäck R, Hellström-Lindberg E. Hypochromic red blood cells in low-risk myelodysplastic syndromes: effects of treatment with hemopoietic growth factors. Haematologica. 2004 Dec. 89(12):1446-53. [Medline]. [Full Text].
Benzadón RJ, Gurfinkel EP. [Neutropenia and hypotension during treatment with recombinant human erythropoietin in refractory anemia with ring sideroblasts] [Spanish]. Sangre (Barc). 1990 Jun. 35(3):238-9. [Medline].
Jädersten M, Malcovati L, Dybedal I, Della Porta MG, Invernizzi R, Montgomery SM, et al. Erythropoietin and granulocyte-colony stimulating factor treatment associated with improved survival in myelodysplastic syndrome. J Clin Oncol. 2008 Jul 20. 26(21):3607-13. [Medline].
Ingram W, Lea NC, Cervera J, Germing U, Fenaux P, Cassinat B, et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia. 2006 Jul. 20(7):1319-21. [Medline].
Huls G, Mulder AB, Rosati S, van de Loosdrecht AA, Vellenga E, de Wolf JT. Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. Blood. 2010 Jul 15. 116(2):180-2. [Medline].
Doll DC, Ringenberg QS, Yarbro JW. Danazol therapy in acquired idiopathic sideroblastic anemia. Acta Haematol. 1987. 77(3):170-1. [Medline].
Jiménez-Balderas FJ, Morales-Polanco MR, Gutierrez L. Acute sideroblastic anemia in active systemic lupus erythematosus. Lupus. 1994 Jun. 3(3):157-9. [Medline].
Ritchey AK, Hoffman R, Dainiak N, et al. Antibody-mediated acquired sideroblastic anemia: response to cytotoxic therapy. Blood. 1979 Sep. 54(3):734-41. [Medline]. [Full Text].
Drénou B, Guyader D, Turlin B, Fauchet R. Treatment of sideroblastic anemia with chloroquine. N Engl J Med. 1995 Mar 2. 332(9):614. [Medline].
Gattermann N, Briviba K, Tsamaloukas A, Aul C, Schneider W. No improvement of refractory sideroblastic anaemia with ubidecarenone. Lancet. 1995 Apr 29. 345(8957):1121-2. [Medline].
García Silva MT, Izquierdo Martinez M, Beloqui Ruiz O. Improvement of refractory sideroblastic anaemia with ubidecarenone. Lancet. 1994 Apr 23. 343(8904):1039. [Medline].
Urban C, Binder B, Hauer C, Lanzer G. Congenital sideroblastic anemia successfully treated by allogeneic bone marrow transplantation. Bone Marrow Transplant. 1992 Oct. 10(4):373-5. [Medline].
González MI, Caballero D, Vázquez L, et al. Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia. Br J Haematol. 2000 Jun. 109(3):658-60. [Medline].
Ayas M, Al-Jefri A, Mustafa MM, et al. Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation. Br J Haematol. 2001 Jun. 113(4):938-9. [Medline].
Kook H, Kim CJ, Yoon WS, Ryang DW, Hwang TJ. Successful allogeneic bone marrow transplantation for childhood-onset refractory anemia with ringed sideroblasts. J Korean Med Sci. 2000 Feb. 15(1):103-4. [Medline]. [Full Text].
Medeiros BC, Kolhouse JF, Cagnoni PJ, et al. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia. Bone Marrow Transplant. 2003 Jun. 31(11):1053-5. [Medline]. [Full Text].
Zoller WG, Hehlmann R. Sideroachrestic anemia with iron loading: treatment with desferrioxamine. Klin Wochenschr. 1986 May 2. 64(9):417-22. [Medline].
French TJ, Jacobs P. Sideroblastic anaemia associated with iron overload treated by repeated phlebotomy. S Afr Med J. 1976 Apr 3. 50(15):594-6. [Medline].

Media Gallery

Ring sideroblast.
Heme synthesis.
Sideroblastic anemias: etiologic classification. DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness.
Iron and total iron-binding capacity in physiology and pathology.
Ringed sideroblast.
Heme synthesis pathway.
Normochromic vs hypochromic red blood cell (RBC).
Pappenheimer bodies seen on giemsa stain.
Basophilic stippling in lead poisoning.

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Author

Nandakumar Mohan, DO Resident Physician, Department of Internal Medicine, Einstein Medical Center Philadelphia

Disclosure: Nothing to disclose.

Coauthor(s)

Claudia M da Costa Dourado, MD Clinical Assistant Professor of Medicine, Sidney Kimmel Medical College of Thomas Jefferson University; Program Director, Hematology and Medical Oncology Fellowship Program, Attending Physician, Division of Hematology and Medical Oncology, Department of Medicine, Einstein Medical Center Philadelphia

Claudia M da Costa Dourado, MD is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Clarence Sarkodee Adoo, MD, FACP Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program

Clarence Sarkodee Adoo, MD, FACP is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Muhammad A Mir, MD, FACP Assistant Professor of Medicine (Hematology, Blood/Marrow Transplant) Milton S Hershey Medical Center, Pennsylvania State University College of Medicine

Muhammad A Mir, MD, FACP is a member of the following medical societies: American College of Physicians, American Society of Hematology, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Gerald L Logue, MD Professor of Medicine, Head of the Division of Hematology, Vice Chairman for Education, Department of Medicine, University of Buffalo State University of New York School of Medicine and Biomedical Sciences

Gerald L Logue, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American College of Physicians, American Society of Hematology, American Federation for Clinical Research

Disclosure: Nothing to disclose.