Thiamin-sensitive megaloblastic anemia

L weakens megaloblastic thiamin-sensitive is a Genetic disease associating a megaloblastic Anémie, a diabetes and a Surdité.

Megaloblastic anemia occurs between childhood and adolescence. It is corrected by the catch of Thiamine to the amount of 25-75 Mg per day (daily Need at the normal individual 1,5 Mg per day) but the macrocytose does not disappear. Anemia returns dice the stop of the treatment. The diabetes is of type not I and occurs at the same time as anemia. Deafness is irreversible and the treatment by thiamin does not prevent its not occurred.

Sources

• Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 249270 * Judith C Fleming, Ellis J Neufeld, Thiamin-In reply Megaloblastic Weakened Syndrome In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.

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