Prevalence of β-Thalassemia and hemoglobin E in two migrant populations of Manipur, North East India.
Hemoglobinopathies are a group of inherited single-gene disorders found commonly in the Mediterranean region, Middle East, Indian subcontinent, Burma, and South East Asia. As many as 229 mutation variants of β-thalassemia are reported in the world, many community/region-specific mutations. Very little on thalassemia has been reported in Manipur, a North Eastern Indian state. Thus, a community genetic approach through population screening can be applied to the people of Manipur and a total of 602 blood samples from unrelated Meitei Brahmins (n=300) and Meitei Muslims (n=302) were screened for abnormal hemoglobins by Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT). HBA(2) level was estimated by using high-performance liquid chromatography and molecular analysis was done by using PCR. Sequencing was also carried out to confirm the mutations. High frequencies of NESTROFT positive (10%) and NESTROFT doubtful (11%) cases were found among the Meitei Brahmins in comparison to the Meitei Muslims [NESTROFT positive (3.31%) and NESTROFT doubtful (1.33%)]. The allele frequency of HB*E was 0.022 and 0.012 among the Meitei Brahmin and Meitei Muslim, respectively. Sequencing of the β-globin gene confirmed a very rare β-thalassemia [-90 C→T (0.33%)] among the Meitei Brahmins of Manipur. This mutation with hemoglobin E in one of the present population hints the presence of the Mongoloid stock among them, possibly from China. There is a need for further studies on other populations of Manipur and the neighboring North East Indian states using such genetic markers.
Molecular Anthropology Laboratory, Department of Anthropology, University of Delhi, Delhi, India.
Nongthombam
N
Achoubi
Mohammad
M
Asghar
Kallur Nava
KN
Saraswathy
Benrithung
B
Murry
D005006:Ethnicity / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006446:Hemoglobin E / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods; D009154:Mutation; D009996:Osmotic Fragility; D015995:Prevalence; D017422:Sequence Analysis, DNA; D014171:Transients and Migrants; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D006446:Hemoglobin E