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  • Short Communication
  • Open Access

Fannin-Lubbock-I [α2β2119(GLY>ASP)], a rare mutation in the beta-globin gene, has been detected for the first time in a Hindu Brahmin family in West Bengal, India

  • 1Email author,
  • 1 and
  • 2
Cellular & Molecular Biology LettersAn International Journal201419:192

https://doi.org/10.2478/s11658-014-0192-6

  • Received: 30 September 2013
  • Accepted: 4 April 2014
  • Published:

Abstract

This study aims to describe the hemoglobin Fannin-Lubbock-I, which has a rare mutation substituting the amino acid glycine with aspartic acid at codon 119 of the β-globin chain. A Bengalee Hindu Brahmin family from Kolkata in West Bengal was the focus of this study. Molecular analysis using ARMS-PCR and direct DNA sequencing revealed the presence of a GGC > GAC mutation in codon 119 of the β-globin gene in a heterozygote state in three women of the same family. This is the first report of the hemoglobin Fannin-Lubbock-I from India. Our results will help to identify this mutation, which is relatively infrequent in our population.

Keywords

  • Hb Fannin-Lubbock-I
  • Bengalee
  • Brahmin family
  • β-globin gene
  • Rare mutation
  • Thalassemia
  • West Bengal
  • India
  • ARMS-PCR
  • Sequencing

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