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Results 1 - 7 of 7 for Sideroblastic anemia 3
  1. X-linked sideroblastic anemia and ataxia 
    ... S, D'Hooghe M, Vermeersch P. X-Linked Sideroblastic Anemia and Ataxia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2006 Mar 1 [updated 2014 Apr 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../x-linked-sideroblastic-anemia-and-ataxia - Genetics
  2. ABCB7 gene 
    ... homeostasis) in developing red blood cells. At least three mutations in the ABCB7 gene have been identified in people with X-linked sideroblastic anemia with ataxia. Each of these mutations changes a ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics
  3. X-linked sideroblastic anemia 
    ... j.bbamcr.2006.05.005. Epub 2006 Jun 3. Citation on PubMed Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg Biomembr. 1995 Apr;27(2):161- ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  4. TRNT1 deficiency 
    ... MD, Wynn RF. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  5. ALAS2 gene 
    ... At least 50 mutations that cause X-linked sideroblastic anemia have been identified in the ALAS2 gene. Almost ... lead to the characteristic features of X-linked sideroblastic anemia. More About This Health Condition 5-aminolevulinate synthase, ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics
  6. HFE gene 
    ... severity of the iron overload in X-linked sideroblastic anemia when it is inherited along with a mutation ... more severe signs and symptoms of X-linked sideroblastic anemia by further increasing the absorption of dietary iron, ...
    https://medlineplus.gov/genetics/gene/hfe - Genetics
  7. TRNT1 gene 
    ... systems. Features can include a blood disorder called sideroblastic anemia, recurrent fevers, a shortage of immune cells called ... M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics