Detection of Hemoglobin E [β26(B8) Glu-Lys, GAG>AAG] mutation among the Tai-Khampti population of Arunachal Pradesh through Restriction Fragment Length Polymorphism

The Khampti is a unique tribal population of Arunachal Pradesh that belongs to Tai-group of linguistic family and followers of Theravada Buddhism. Northeast India is recognised as one of the core areas where abnormal haemoglobin E is found abundantly. But till date no investigation of abnormal haemoglobin has been reported from this population. The present study tried to find out the frequency of abnormal haemoglobin E among this community with the help of PCR-RFLP method. We have screened 52 individuals, consisting of 25 females and 27 males for the presence of abnormal haemoglobin E. Out of 52 individuals, 7 individuals were found to have carriers of HbE whereas 2 individuals were found to have in homozygous state (HbEE) showing an HbE allele frequency of 0.105 in this population. The findings may help to scale up further genetic screening of abnormal haemoglobin as well as genetic counselling in this population.