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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


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.



amplification refractory mutation system


complete blood count




Human Genome Mutation Database


high performance liquid chromatography


mean corpuscular hemoglobin


mean corpuscular hemoglobin concentration


mean corpuscular volume


National Centre for Biotechnology Information


polymerase chain reaction


red blood cell


red cell distribution width


restriction fragment length polymorphism


white blood cell


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Correspondence to Jayasri Basak.

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Basak, J., Bhattacharyya, D.M. & Mukhopadhyay, A. 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. Cell Mol Biol Lett 19, 277–283 (2014).

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