Ana L.C. Martinelli, Rui Filho, Samantha Cruz, Rendrik Franco, Marli Tavella, Marie Secaf, Leandra Ramalho, Sergio Zucoloto, Sandra Rodrigues, Marcos Zago
Published February 25, 2005
Genet. Mol. Res. 4 (1): 31-38 (2005)
About the Authors
Ana L.C. Martinelli, Rui Filho, Samantha Cruz, Rendrik Franco, Marli Tavella, Marie Secaf, Leandra Ramalho, Sergio Zucoloto, Sandra Rodrigues, Marcos Zago
Corresponding author
A.L.C. Martinelli
Email: adlcmart@fmrp.usp.br
ABSTRACT
Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G→A, C282Y and 187C→G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of HH in the Brazilian population, which has a very high level of racial admixture, is unknown. The aims of the present study were to identify individuals with diagnostic criteria for HH among patients with a body iron overload attended at the university hospital of the Faculty of Medicine of Ribeirão Preto from 1990 to 2000, and to evaluate the prevalence of HFE mutations. We screened first-degree relatives for HFE mutations. Four of 72 patients (three men and one woman, mean age 47 years) fulfilled the criteria for HH. HFE mutations were studied in three patients [two C282Y homozygotes (patients 1 and 2) and one H63D heterozygote]. Patient 1 had four children (all C282Y heterozygotes with no iron overload) and seven brothers and sisters: two sisters (66 and 76 years old) were C282Y homozygotes and both had an iron overload (a liver biopsy in one showed severe iron deposits), one sister (79 yearsold) was a compound heterozygote with no iron overload, one brother (78 years old) was a C282Y heterozygote with no iron overload, two individuals were H63D heterozygotes (one brother, 49 years old, obese, with a body iron overload and abnormal liver enzymes – a biopsy showed non-alcoholic steatohepatitis, and one 70-year-old sister with no iron overload). Patient 2 had two children (22 and 24 years old who were C282Y heterozygotes with no iron overload) but no brothers or sisters. These results showed that HH was uncommon among individuals attended at our hospital, although HFE mutations were found in all patients. Familial screening is valuable for the early diagnosis of individuals at risk since it allows treatment to be initiated before the onset of the clinical manifestations of organ damage associated with HH.
Key words: Body iron overload, Genetic diseases, European descent, Hereditary hemochromatosis, HFE mutations.