Onset of X-linked sideroblastic anemia in the fourth decade.

نویسندگان

  • Emília Cortesão
  • Júlia Vidan
  • Janet Pereira
  • Paula Gonçalves
  • Maria Letícia Ribeiro
  • Gabriel Tamagnini
چکیده

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

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late-onset X-linked sideroblastic anemia in carrier females Familial-skewed X-chromosome inactivation as a predisposing factor for

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عنوان ژورنال:
  • Haematologica

دوره 89 10  شماره 

صفحات  -

تاریخ انتشار 2004