HFE gene mutations in Brazilian thalassemic patients
Braz. j. med. biol. res
;
39(12): 1575-1580, Dec. 2006. tab
Article
in English
| LILACS
| ID: lil-439692
ABSTRACT
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were 0.98, 2.38, and 0.29 percent for the C282Y mutation, 13.72, 13.70, and 9.54 percent for the H63D mutation, and 0, 0.60, and 0.87 percent for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Histocompatibility Antigens Class I
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Membrane Proteins
/
Mutation
Type of study:
Observational study
/
Risk factors
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2006
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Faculdade de Medicina de São Jose do Rio Preto/BR
/
Hospital Israelita Albert Einstein/BR
/
Universidade de São Paulo/BR
/
Universidade do Estado de São Paulo/BR
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