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- Title
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
- Authors
Rose, Christian; Callebaut, Isabelle; Pascal, Laurent; Oudin, Claire; Fournier, Martine; Gouya, Laurent; Lambilliotte, Anne; Kannengiesser, Caroline
- Abstract
The article presents a study on lethal 5-amino-levulinate synthase gene (ALAS2) mutation in male X-linked sideroblastic anaemia (XLSA), which is reported in a four-generation pedigree. The syndrome was ascertained through an adult heterozygous female with skewed X inactivation, macrocytic congenital sideroblastic anaemia, and excessive number of miscarriages. The phenotype of XLSA in the female is explained.
- Subjects
SYNTHASE genetics; GENETIC mutation; ANEMIA; MACROCYTIC anemia; PHENOTYPES; GENETICS
- Publication
British Journal of Haematology, 2017, Vol 178, Issue 4, p648
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.14164