Haemochromatosis in patients with β-thalassaemia trait

Alberto Piperno, Raffaella Mariani, Cristina Arosio, Anna Vergani, Sandra Bosio, Silvia Fargion, Maurizio Sampietro, Domenico Girelli, Mirella Fraquelli, Dario Conte, Gemino Fiorelli, Clara Camaschella

Research output: Contribution to journalArticlepeer-review

Abstract

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 βthalassaemia 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 nonhomozygous 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.

Original languageEnglish
Pages (from-to)908-914
Number of pages7
JournalBritish Journal of Haematology
Volume111
Issue number3
DOIs
Publication statusPublished - 2000

Keywords

  • β-thalassaemia
  • Haemochromatosis
  • HFE
  • Ineffective erythropoiesis
  • Iron overload

ASJC Scopus subject areas

  • Hematology

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