Prevalence of β-Thalassemia and hemoglobin E in two migrant populations of Manipur, North East India

Genet Test Mol Biomarkers. 2012 Oct;16(10):1195-200. doi: 10.1089/gtmb.2011.0373.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ethnicity / ethnology
  • Ethnicity / genetics*
  • Female
  • Gene Frequency
  • Hemoglobin E / genetics*
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / genetics
  • Humans
  • India / epidemiology
  • Male
  • Mass Screening / methods
  • Mutation
  • Osmotic Fragility
  • Prevalence
  • Sequence Analysis, DNA
  • Transients and Migrants*
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / epidemiology*
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*


  • Hemoglobins, Abnormal
  • beta-Globins
  • Hemoglobin E