X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns
M Aivado, N Gattermann, A Rong… - Blood Cells, Molecules …, 2006 - Elsevier
Historically X-linked sideroblastic anemia, with rare exceptions, was thought to be
manifested only in males. Since the discovery of the erythroid-specific isoform of 5-
aminolevulinate synthase (ALAS2) and the cloning of its gene (ALAS2) 15 years ago,
mutation analysis has revealed that clinical expression of this X-linked disorder is prevalent
in females as well. However, presence of the disease in both genders within affected
kindreds appears to be very uncommon. We report a unique family with the disorder in three …
manifested only in males. Since the discovery of the erythroid-specific isoform of 5-
aminolevulinate synthase (ALAS2) and the cloning of its gene (ALAS2) 15 years ago,
mutation analysis has revealed that clinical expression of this X-linked disorder is prevalent
in females as well. However, presence of the disease in both genders within affected
kindreds appears to be very uncommon. We report a unique family with the disorder in three …