Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients

Am J Hematol. 2011 Sep;86(9):787-9. doi: 10.1002/ajh.22088. Epub 2011 Jul 28.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Adult
  • Amino Acid Substitution*
  • Anemia, Sideroblastic / ethnology
  • Anemia, Sideroblastic / genetics*
  • Black or African American
  • Child
  • Genetic Association Studies
  • Genetic Diseases, X-Linked
  • Humans
  • Iron Overload / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Severity of Illness Index
  • United States

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human

Supplementary concepts

  • Bantu siderosis
  • X-linked sideroblastic anemia