The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients

Marianna Politou; Vassiliki Kalotychou; Maria Pissia; Yannis Rombos; Nikos Sakellaropoulos; George Papanikolaou

The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients

Haematologica. 2004 Apr;89(4):490-2.

Authors

Marianna Politou, Vassiliki Kalotychou, Maria Pissia, Yannis Rombos, Nikos Sakellaropoulos, George Papanikolaou

PMID: 15075083

Abstract

In this study, we evaluated the impact of mutations of the HFE and ferroportin gene on iron overload in thalassemia intermedia and betas/betathal patients. Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in either group of patients.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Anemia / etiology
Cation Transport Proteins / genetics*
Female
Ferritins / blood
Genotype
Greece
Hemochromatosis Protein
Histocompatibility Antigens Class I / genetics*
Humans
Iron Overload / genetics*
Male
Membrane Proteins / genetics*
Middle Aged
Mutation, Missense*
Thalassemia / metabolism

Substances

Cation Transport Proteins
HFE protein, human
Hemochromatosis Protein
Histocompatibility Antigens Class I
Membrane Proteins
metal transporting protein 1
Ferritins