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X-linked sideroblastic anemia 1(ANH1; XLSA; SIDBA1)

MedGen UID:
1638704
Concept ID:
C4551511
Disease or Syndrome
Synonyms: Anemia, hereditary sideroblastic 1, pyridoxine refractory; Anemia, sideroblastic, 1; ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY; Congenital Sideroblastic Anemia; Erythroid 5-aminolevulinate synthase deficiency; X chromosome-linked sideroblastic anemia; X-linked pyridoxine-refractory sideroblastic anemia; X-Linked Sideroblastic Anemia
SNOMED CT: X-linked sideroblastic anemia (48983004); X chromosome-linked sideroblastic anemia (48983004)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): ALAS2 (Xp11.21)
 
Monarch Initiative: MONDO:0020721
OMIM®: 300751
Orphanet: ORPHA75563

Definition

X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.

The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. [from MedlinePlus Genetics]

Clinical features

From HPO
Asthenia
MedGen UID:
2107
Concept ID:
C0004093
Sign or Symptom
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Macrocytic anemia
MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Sideroblastic anemia
MedGen UID:
8067
Concept ID:
C0002896
Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
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.
Anemia of inadequate production
MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Anemic pallor
MedGen UID:
871323
Concept ID:
C4025811
Sign or Symptom
A type of pallor that is secondary to the presence of anemia.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked sideroblastic anemia 1

Professional guidelines

PubMed

Fujiwara T, Okamoto K, Niikuni R, Takahashi K, Okitsu Y, Fukuhara N, Onishi Y, Ishizawa K, Ichinohasama R, Nakamura Y, Nakajima M, Tanaka T, Harigae H
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BROWN EB, MOORE CV
Prog Hematol 1956;1:22-46. PMID: 13359502
CRAIG PE
Med Times 1953 Jan;81(1):44-9. PMID: 13012595

Recent clinical studies

Etiology

Lian Y, Shi J, Nie N, Huang Z, Shao Y, Zhang J, Huang J, Li X, Ge M, Jin P, Wang M, Zheng Y
Hemoglobin 2019 Jul-Sep;43(4-5):229-235. Epub 2019 Sep 3 doi: 10.1080/03630269.2019.1655440. PMID: 31476929
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
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
Donker AE, Raymakers RA, Nieuwenhuis HK, Coenen MJ, Janssen MC, MacKenzie MA, Brons PP, Swinkels DW
Neth J Med 2014 May;72(4):210-7. PMID: 24829177
Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ
Pediatr Blood Cancer 2010 Feb;54(2):273-8. doi: 10.1002/pbc.22244. PMID: 19731322Free PMC Article

Diagnosis

Nzelu D, Shangaris P, Story L, Smith F, Piyasena C, Alamelu J, Elmakky A, Pelidis M, Mayhew R, Sankaran S
BMC Med Genomics 2021 Dec 20;14(1):296. doi: 10.1186/s12920-021-01146-z. PMID: 34930268Free PMC Article
Zhang Y, Zhang J, An W, Wan Y, Ma S, Yin J, Li X, Gao J, Yuan W, Guo Y, Engel JD, Shi L, Cheng T, Zhu X
Nucleic Acids Res 2017 Jan 25;45(2):657-671. Epub 2016 Oct 7 doi: 10.1093/nar/gkw901. PMID: 28123038Free PMC Article
Katsurada T, Kawabata H, Kawabata D, Kawahara M, Nakabo Y, Takaori-Kondo A, Yoshida Y
Int J Hematol 2016 Jun;103(6):713-7. Epub 2016 Feb 10 doi: 10.1007/s12185-016-1949-7. PMID: 26862056
Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS
Blood Cells Mol Dis 2006 Jul-Aug;37(1):40-5. Epub 2006 Jun 2 doi: 10.1016/j.bcmd.2006.04.003. PMID: 16735131
Yamamoto M, Nakajima O
Int J Hematol 2000 Aug;72(2):157-64. PMID: 11039663

Therapy

Morimoto Y, Chonabayashi K, Kawabata H, Okubo C, Yamasaki-Morita M, Nishikawa M, Narita M, Inagaki A, Nakanishi K, Nagao M, Takaori-Kondo A, Yoshida Y
Blood Adv 2022 Feb 22;6(4):1100-1114. doi: 10.1182/bloodadvances.2021005664. PMID: 34781359Free PMC Article
Fratz-Berilla EJ, Breydo L, Gouya L, Puy H, Uversky VN, Ferreira GC
Biochim Biophys Acta Mol Basis Dis 2017 Feb;1863(2):428-439. Epub 2016 Nov 10 doi: 10.1016/j.bbadis.2016.11.011. PMID: 27838491
Fernández-Murray JP, Prykhozhij SV, Dufay JN, Steele SL, Gaston D, Nasrallah GK, Coombs AJ, Liwski RS, Fernandez CV, Berman JN, McMaster CR
PLoS Genet 2016 Jan;12(1):e1005783. Epub 2016 Jan 28 doi: 10.1371/journal.pgen.1005783. PMID: 26821380Free PMC Article
Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, Manabe A, Ito E, Ozawa K, Kojima S, Ogawa S, Harigae H
Ann Hematol 2013 Jan;92(1):1-9. Epub 2012 Sep 16 doi: 10.1007/s00277-012-1564-5. PMID: 22983749Free PMC Article
Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS
Blood Cells Mol Dis 2006 Jul-Aug;37(1):40-5. Epub 2006 Jun 2 doi: 10.1016/j.bcmd.2006.04.003. PMID: 16735131

Prognosis

Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS
Blood Cells Mol Dis 2006 Jul-Aug;37(1):40-5. Epub 2006 Jun 2 doi: 10.1016/j.bcmd.2006.04.003. PMID: 16735131
Cotter PD, Rucknagel DL, Bishop DF
Blood 1994 Dec 1;84(11):3915-24. PMID: 7949148

Clinical prediction guides

Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Kaneko K, Kubota Y, Nomura K, Hayashimoto H, Chida T, Yoshino N, Wayama M, Ogasawara K, Nakamura Y, Tooyama I, Furuyama K
Exp Hematol 2018 Sep;65:57-68.e2. Epub 2018 Jun 13 doi: 10.1016/j.exphem.2018.06.002. PMID: 29908199
Fernández-Murray JP, Prykhozhij SV, Dufay JN, Steele SL, Gaston D, Nasrallah GK, Coombs AJ, Liwski RS, Fernandez CV, Berman JN, McMaster CR
PLoS Genet 2016 Jan;12(1):e1005783. Epub 2016 Jan 28 doi: 10.1371/journal.pgen.1005783. PMID: 26821380Free PMC Article
Kakhlon O, Manning H, Breuer W, Melamed-Book N, Lu C, Cortopassi G, Munnich A, Cabantchik ZI
Blood 2008 Dec 15;112(13):5219-27. Epub 2008 Sep 16 doi: 10.1182/blood-2008-06-161919. PMID: 18796625
Yamamoto M, Nakajima O
Int J Hematol 2000 Aug;72(2):157-64. PMID: 11039663

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