Le Phan, Minh Triet (2014) Hemoglobinopathies in mountainous region of Thua Thien Hue, Vietnam. Doctoral Thesis.
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The spectrum of ß-thalassemia mutations was determined in two Districts of the Central province of Thua Thien Hue (A Luoi and Nam Dong).
A community-based assessment was conducted to estimate the prevalence of hemoglobinopathies and to assess their molecular basis. 1100 participants were enrolled including 83.73% of the minorities and 16.27% of the Kinh.
The blood samples were firstly screened by complete blood count and osmotic fragility test. Hemoglobinopathies were diagnosed by electrophoresis and High Performance Liquid Chromatography. Mutations at the level of β and α globin genes were identified by DNA sequencing.
Four mutations of the β0-thalassemia were observed in five subjects:
- Two of these showed the AAG→TAG at codon 17. One was in combination with the βE gene (genotype β0/βE) and one was β0/β.
- One showed the G→T at the IVS-I nt 1 (genotype β0/βE). Due to the presence of Hb F, the γ globin genes were also sequenced. The C→T in the promoter region, at position -158 of the Gγ gene (also known as the XmnI polymorphism) was found.
- One was the carrier of a 4 bp deletion (-TTCT) involving codons 41/42 (genotype β0/β).
- One was the carrier of the G insertion at codons 14/15 (genotype β0/β).
Sequencing also confirmed that the G→A at codon 26 (GAG→AAG) of the β globin gene is responsible for Hb E.
The prevalence of the hemoglobinopathies appears to be higher within the minorities than the Kinh population.
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