Tamanho da fonte:
THE C282Y AND H63D MUTATIONS IN THE HAEMOCHROMATOSIS GENE AMONG SICKLE CELL ANEMIA PATIENTS FROM THE NORTHEAST OF BRAZIL
Joelma F. Menezes, Elisângela V. Adorno, José Pereira Moura Neto, Angela A. D. Zanette, Isa M. Lyra, Mitermayer G. Reis, Marilda S. Gonçalves
Resumo
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.
Keywords: Hereditary haemochromatosis, C282Y mutation, H63D mutation, sickle cell anemia patients.
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.
Keywords: Hereditary haemochromatosis, C282Y mutation, H63D mutation, sickle cell anemia patients.
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