Identifikasi Mutasi H63D Gen HFE pada Kelainan HbE  

Oleh:

Tursinawati, Yanuarita ; Widyastiti, Nyoman Suci ; Tamam, Moedrik

Jenis: Article from Journal - ilmiah nasional - terakreditasi DIKTI
Dalam koleksi: Indonesian Journal of Clinical Pathology and Medical Laboratory vol. 22 no. 02 (Mar. 2016), page 176-181.
Topik: H63D Mutation; HFE Gene; HbE Disorder; Mutasi H63D; Gen HFE
Fulltext: I01 v22 n2 p176 kelik2017.pdf (235.32KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: I01.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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