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Anemia, sideroblastic, 5(SIDBA5)

MedGen UID:
1794195
Concept ID:
C5561985
Disease or Syndrome
Synonyms: ANEMIA, SIDEROBLASTIC, 5; SIDBA5
 
Gene (location): HSCB (22q12.1)
 
Monarch Initiative: MONDO:0030436
OMIM®: 619523

Definition

Sideroblastic anemia-5 (SIDBA5) is an autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. The pathologic iron deposits appear to ring the nucleus, resulting in a 'ringed sideroblast' on pathologic examination. Affected individuals have congenital hypochromic microcytic anemia apparent in childhood; they may also develop thrombocytopenia or pancytopenia (summary by Crispin et al., 2020). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [from OMIM]

Clinical features

From HPO
Refractory anemia with ringed sideroblasts
MedGen UID:
220394
Concept ID:
C1264195
Neoplastic Process
A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Hypochromic microcytic anemia
MedGen UID:
124413
Concept ID:
C0271901
Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
Reduced hematocrit
MedGen UID:
1630955
Concept ID:
C0744727
Finding
A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Koc S, Harris JW
Am J Hematol 1998 Jan;57(1):1-6. doi: 10.1002/(sici)1096-8652(199801)57:1<1::aid-ajh1>3.0.co;2-0. PMID: 9423809
Mason DY, Emerson PM
Br Med J 1973 Feb 17;1(5850):389-90. doi: 10.1136/bmj.1.5850.389. PMID: 4691061Free PMC Article

Recent clinical studies

Etiology

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD
Blood 2016 Oct 13;128(15):1913-1917. Epub 2016 Aug 3 doi: 10.1182/blood-2016-05-719062. PMID: 27488349Free PMC Article
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Natelson EA
Am J Med Sci 2007 Nov;334(5):356-60. doi: 10.1097/MAJ.0b013e3180cab70a. PMID: 18004090
Killip S, Bennett JM, Chambers MD
Am Fam Physician 2007 Mar 1;75(5):671-8. PMID: 17375513

Diagnosis

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Lefèvre C, Bondu S, Le Goff S, Kosmider O, Fontenay M
Curr Opin Hematol 2017 May;24(3):191-197. doi: 10.1097/MOH.0000000000000325. PMID: 28072603
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Killip S, Bennett JM, Chambers MD
Am Fam Physician 2007 Mar 1;75(5):671-8. PMID: 17375513
Richardson M
Pediatr Rev 2007 Jan;28(1):5-14. doi: 10.1542/pir.28-1-5. PMID: 17197454

Therapy

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Colucci G, Silzle T, Solenthaler M
Am J Hematol 2012 Mar;87(3):305. Epub 2011 Aug 4 doi: 10.1002/ajh.22125. PMID: 21818765
Killip S, Bennett JM, Chambers MD
Am Fam Physician 2007 Mar 1;75(5):671-8. PMID: 17375513
Dabich L
Med Clin North Am 1980 Jul;64(4):683-704. doi: 10.1016/s0025-7125(16)31588-7. PMID: 6995730
Kushner JP, Cartwright GE
Adv Intern Med 1977;22:229-49. PMID: 320843

Prognosis

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Zheng H, Ji C, Zou X, Wu M, Jin Z, Yin G, Li J, Feng C, Cheng H, Gu S, Xie Y, Mao Y
DNA Seq 2003 Oct;14(5):369-73. doi: 10.1080/10425170310001605491. PMID: 14756423
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904
Girdwood RH
Drugs 1976;11(5):394-404. doi: 10.2165/00003495-197611050-00003. PMID: 782836

Clinical prediction guides

Ochi T, Fujiwara T, Ono K, Suzuki C, Nikaido M, Inoue D, Kato H, Onodera K, Ichikawa S, Fukuhara N, Onishi Y, Yokoyama H, Nakamura Y, Harigae H
Sci Rep 2022 Aug 26;12(1):14562. doi: 10.1038/s41598-022-18921-2. PMID: 36028755Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2015 Jun;90(6):549-59. doi: 10.1002/ajh.24038. PMID: 25899435
Napier I, Ponka P, Richardson DR
Blood 2005 Mar 1;105(5):1867-74. Epub 2004 Nov 4 doi: 10.1182/blood-2004-10-3856. PMID: 15528311
Zheng H, Ji C, Zou X, Wu M, Jin Z, Yin G, Li J, Feng C, Cheng H, Gu S, Xie Y, Mao Y
DNA Seq 2003 Oct;14(5):369-73. doi: 10.1080/10425170310001605491. PMID: 14756423
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

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