X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns

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 e...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2006-07, Vol.37 (1), p.40-45
Hauptverfasser:	Aivado, Manuel, Gattermann, Norbert, Rong, Astrid, Giagounidis, Aristoteles A.N., Prall, Wolf C., Czibere, Akos, Hildebrandt, Barbara, Haas, Rainer, Bottomley, Sylvia S.
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Aminolevulinate Synthetase - genetics Adolescent Adult Age Factors Anemia, Sideroblastic - diagnosis Anemia, Sideroblastic - genetics Diagnosis, Differential Erythroid 5-aminolevulinate synthase Erythroid Precursor Cells Family Health Female Genetic Diseases, X-Linked Humans Inheritance Patterns Mutation Skewed X-chromosome inactivation patterns Unfortunate skewing X Chromosome Inactivation X-linked sideroblastic anemia
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