IDENTIFIKASI MUTASI H63D GEN HFE PADA KELAINAN HBE

Abstract

The H63D HFE mutation has been reported to be responsible for primary haemochromatosis. The allele frequency in Indonesian
population is about 2.8%. Co inheritance between H63D mutation and hemoglobin disorders such as Thalassemia may increase the
severity of iron overload. Nevertheless, the coinheritance of this mutation with HbE disorder is the most common hemoglobin disorder
in Indonesia and the gene frequency have not been reported especially in Javanese ethnic. To identify the presence and the frequency of
H63D HFE mutation in HbE disorder among Javanese ethnic. A cross sectional study involved 24 Javanese individuals who consist of
21 HbE heterozygotes (HbAE) and 3 HbE homozygotes (HbEE) subjects. The subjects were screened for H63D mutation by digestion of
PCR products with MbO I restriction endonuclease. The genotype frequency for wt/wt was 95.24% in HbAE, 100% in HbEE and for wt/
H63D was 4.76% in HbAE. The allele frequency for H63D HFE mutation was 2.08% in total sample of HbE. The allele frequencies in
HbAE and HbEE individual were 2.38% and 0%, respectively. H63D HFE mutation is found in 24 Javanese ethnic individual with HbE
disorder. However, the allele frequency of H63D HFE mutation is low and almost similar to the allele frequency of H63D HFE mutation
in Indonesian population.