ABSTRACT
BACKGROUND: Hereditary hemochromatosis (HH) is a genetic disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders, and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this article is identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increase of serum ferritin in patients from Natal City from state of Rio Grande do Norte, located in northeastern Brazil. RESULTS: Of the 299 patients studied for C282Y and H63D, 48.49% showed absence of mutation and 51.51% showed some sort of mutation: heterozygous C282Y mutation in 4.35% patients, homozygous C282Y mutation in 2.67% patients, heterozygous H63D mutation in 31.44% patients, homozygous H63D mutation in 8.03% patients, and heterozygous for the mutation in both genes (C282Y/H63D) in 5.02% patients. The S65C mutation was studied in 112 patients and heterozygous mutation (S65D/WT) in 2.67% of patients and double mutation (H63D/S65C) in 1.78% of patients were observed. CONCLUSION: Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.
Subject(s)
Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics , Brazil/epidemiology , Female , Gene Frequency , Genotype , Hemochromatosis/epidemiology , Hemochromatosis Protein , Heterozygote , Histocompatibility Antigens Class I/chemistry , Humans , Male , Membrane Proteins/chemistry , Mutation , PrevalenceABSTRACT
A síndrome HELLP é uma grave complicação da pré-eclampsia, cursando com elevada morbimortalidade materna e perinatal. Controvérsias ocorrem com relação à incidência, critérios de diagnóstico e conduta nesta síndrome. As mortes perinatais estão relacionadas com o descolamento prematuro da placenta, asfixia intra-útero e prematuridade. A utilização de altas doses de corticóide no tratamento parece proporcionar melhores resultados maternos e perinatais, no entanto, são necessários estudos randomizados para sua completa e segura utilização na síndrome HELLP. O maior desafio diante desta síndrome é o diagnóstico precoce, intervenção oportuna e a prevenção das complicações. Sendo assim, as pacientes com suspeita de síndrome HELLP deverão ser encaminhadas para um serviço de assistência terciária para que sejam assistidas por uma equipe especializada, e tão logo possível, promova-se a interrupção da gestação.
