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Haemochromatosis in patients with β‐thalassaemia trait
Author(s) -
Piperno Alberto,
Mariani Raffaella,
Arosio Cristina,
Vergani Anna,
Bosio Sandra,
Fargion Silvia,
Sampietro Maurizio,
Girelli Domenico,
Fraquelli Mirella,
Conte Dario,
Fiorelli Gemino,
Camaschella Clara
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02436.x
Subject(s) - hemochromatosis , trait , proband , heterozygote advantage , genetics , allele , genotype , medicine , haplotype , biology , gene , mutation , computer science , programming language
Severe iron overload has been reported in patients with the β‐thalassaemia trait. Studies performed before the discovery of the haemochromatosis gene ( HFE ) have yielded conflicting results: some suggest that iron overload might arise from the interaction of the β‐thalassaemia trait with heterozygosity for haemochromatosis, some with homozygosity for haemochromatosis and others that it was unrelated to haemochromatosis. We have studied the clinical phenotype, iron indices and HFE genotypes of 22 unrelated patients with the β‐thalassaemia trait and haemochromatosis, the inheritance of chromosome 6p and 1q haplotypes in families of non‐homozygous C282Y probands and serum measures of iron status in relatives heterozygous for C282Y with or without the β‐thalassaemia trait. We demonstrate that the β‐thalassaemia trait aggravates the clinical picture of C282Y homozygotes, favouring higher rates of iron accumulation and the development of severe iron‐related complications. We suggest that the coexistence of the β‐thalassaemia trait might also increase the risk of iron overload in patients with HFE genotypes at a mild risk of haemochromatosis. Our findings do not support the hypothesis that the association of the β‐thalassaemia trait with a single C282Y or H63D allele might lead to iron overload and suggest that other non‐ HFE ‐related inherited factors are present in haemochromatosis patients with incomplete HFE genotypes.