Prevalence of hemochromatosis in the Puerto Rico veteran population

BACKGROUND: Hereditary hemochromatosis (HH) is a disorder of iron storage that results in iron overload. It's prevalence in Puerto Rico (PR) is unknown and the condition frequently undiagnosed. PURPOSE: Determine the prevalence of HH in the PR Veteran population. METHODS: Patients attending the San Juan VA Medical Center Laboratory for routine tests were invited to participate. Basic demographic data, symptoms related questionnaire, fasting samples for unbound iron binding capacity (UIBC) and serum iron were obtained. Transferrin saturation (TS) > or =45% was considered as iron overload. Patients with elevated TS had a second test done to confirm iron overload. Genetic testing was performed to patients with sustained elevated TS. RESULTS: Data from 521 of the 559 recruited patients was available for analysis. 59 patients had TS > or =45%. Iron overload was confirmed in eleven patients. Two patients were lost to follow up; one had secondary causes for iron overload. Eight patients underwent genetic testing. Genetic mutations associated with hemochromatosis were found in four patients. CONCLUSION: The estimated prevalence of confirmed iron overload in our population is 2%, similar to one in the United States, while the prevalence of genetic mutations associated to hemochromatosis is 0.76%, which is slightly higher. Both genetic mutations (C282Y, H63D) are equally seen in the evaluated population which is different from reports elsewhere. Physician awareness of the prevalence of HH in PR may result in increased screening and early identification of the condition.

Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000)

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 Ribeirao 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 years old) 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

Hemocromatosis

En la hemocromatosis hay sobrecarga de hierro por incremento en el ingreso. La hemocromatosis hereditaria es un trastorno autosómico recesivo frecuente. hay mayor absorción del hierro a nivel intestinal y el hierro de depósito, normalmente de 1 g, puede ascender a 20 g o más, ocacionando alteraciones funcionales y daño de estructuras de órganos como el hígado, páncreas, corazón e hipófisis. Suele manifestarse clínicamente después de los 40 años por cirrosis, diabetes, insuficiencia cardíaca e hipogonadismo. El tamiz diagnóstico se efectúa con saturación de la transferrina(>50 por ciento en mujeres y <60 por ciento en hombres)y la ferritina (>200 g/dL). El diagnóstico se comprueba con labiopsia hepática. La terapia de elección son las flebotomías semanales hasta la normalización de los depósitos de hierro. Debe estudiarse la familia y establecer la vigilancia y/o el tratamiento periódico de los pacientes sintomáticos y asintomáticos. La sobrecarga de hierro transfunsional se presenta en pacientes con anemia aplástica, talasemia mayor y anemia falciforme, que reciben transfunsiones sanguíneas repetidas. El exceso de hierro se remueve con agentes quelantes como la desferroxamina en infusiones parenterales, que promueven la eliminación urinaria del hierro. En formas raras de hemocromatosis, la terapia quelante y las flebotomías ayudan en su manejo.