Article
Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations.
British journal of haematology - 1 Jan 1999
Beris P, Samii K, Darbellay R, Zoumbos N, Tsoplou P, Kourakli A, Preud'homme C, Fenaux P
Abstract excerpt
Forty Caucasian patients with primary acquired sideroblastic anaemia (SA), were investigated for the presence of the Cys282Tyr and/or His63Asp mutation as possible cofactor(s) for iron overload. One patient was heterozygous for the Cys282Tyr mutation and 13 heterozygotes and one homozygote for the His63Asp mutation were found (no difference compared with controls). SA patients with normal codon 63 had a mean...
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