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THE C282Y AND H63D MUTATIONS IN THE HAEMOCHROMATOSIS GENE AMONG SICKLE CELL ANEMIA PATIENTS FROM THE NORTHEAST OF BRAZIL
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Abstract in Portuguese
A Hemocromatose Hereditária (HH) é uma doença autossômica recessiva. As mutações C282Y e H63D no gene HFE têm
sido associadas à HH. Objetivo: Avaliar as frequências das mutações C282Y e H63D em pacientes com anemia falciforme
(SS) e em recém-nascidos de Salvador, Bahiaa, Brasil. Resultados: dos 130 pacientes SS analisados, hum (1%) foi heterozigoto
para a mutação C282Y e 22 (16,9%) foi heterozigoto para H63D. O grupo controle apresentou frequência alélica similar
para as mutações estudadas. Entre os pacientes 23 (38.3%) apresentaram níveis séricos de ferritina elevados. Os haplótipos
mais frequentes para o gene da globina bS foram CAR/BEN, BEN/BEN e CAR/CAR. As mutações investigadas parecem ter um
papel importante nas crises de vaso-oclusão (p=0.037) entre os pacientes SS.
Abstract
Hereditary haemochromatosis (HH) is an autosomal recessive disorder. C282Y and the H63D mutations in the HFE
gene have been associated to HH. AIM: To evaluate the frequencies of the C282Y and H63D mutations in sickle cell
anemia patients (SS) and a reference group of newborns from Salvador, Bahia, Brazil. RESULTS: Of the 130 sickle
cell anemia patients analyzed, one (1%) was heterozygous for the C282Y mutation and 22 (16.9%) were heterozygous
for the H63D mutation. The reference group showed a similar allelic frequency of mutations. Among the patient
group, ferritin serum levels were high in 23 (38.3%) samples. The most frequent bS- globin gene genotypes were
CAR/BEN, BEN/BEN and CAR/CAR. The mutations investigated seem to play an important role in vaso-occlusive
crises (p=0.037) among sickle cell patients.
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