Indian Journal of Medical Research

ORIGINAL ARTICLE
Year
: 2016  |  Volume : 143  |  Issue : 3  |  Page : 315--322

Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand


Somphon Pharephan1, Pannee Sirivatanapa2, Sanit Makonkawkeyoon3, Wirote Tuntiwechapikul1, Luksana Makonkawkeyoon1 
1 Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
2 Department of Obstetrics & Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
3 Department of Microbiology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

Correspondence Address:
Luksana Makonkawkeyoon
Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai 50 200
Thailand

Background & objectives: Alpha-thalassaemias are genetic disorders with high prevalence in northern Thailand. However, common genotypes and current data on the prevalence of α-thalassaemias have not been reported in this region. Therefore, the objective of the present study was to determine the prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand. Methods: Genomic DNA was extracted from blood samples of pregnant women who came to Maharaj Nakorn Chiang Mai University Hospital during July 2009 to 2010. The common deletion and point mutation genotypes of α-thalassaemia were evaluated by gap- polymerase chain reaction (PCR) and PCR with restriction fragment length polymorphism (RFLP). Results: Genotypes of 638 pregnant women were: 409 samples (64.11%) being normal subjects (αα/αα) and 229 samples (35.89%) with α-thalassaemias. these 229 samples could be classified into deletional HbH disease (--SEA/-α3.7) for 18 samples (2.82%); heterozygous α0-thalassaemia --SEA type (--SEA/αα)) for 78 (12.23%); heterozygous α+-thalassaemia - α3.7 type (-α3.7/αα) for 99 (15.52%); homozygous α+-thalassaemia - α3.7 type (-α3.7/- α3.7) for five (0.78%); heterozygous α+-thalassaemia - α4.2 type (-α4.2/αα) for two (0.31%); and heterozygous HbCS (αCSα/αα) for 27 (4.23%) cases. Interpretation & conclusions: The prevalence of α-thalassaemias in pregnant women in northern Thailand was high. This finding supports the implementation of the prevention and control of this common genetic disorder by screening for α-thalassaemia genotypes.


How to cite this article:
Pharephan S, Sirivatanapa P, Makonkawkeyoon S, Tuntiwechapikul W, Makonkawkeyoon L. Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand.Indian J Med Res 2016;143:315-322


How to cite this URL:
Pharephan S, Sirivatanapa P, Makonkawkeyoon S, Tuntiwechapikul W, Makonkawkeyoon L. Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand. Indian J Med Res [serial online] 2016 [cited 2020 Jul 12 ];143:315-322
Available from: http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=3;spage=315;epage=322;aulast=Pharephan;type=0