- Short Communication
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
Cellular & Molecular Biology Letters volume 19, pages 277–283 (2014)
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
Moo-Penn, W.F., Bechtel, K.C., Johnson, M.H., Jue, D.L., Therrel, B.L. Jr, Morrison, B.Y. and Schmidt, R.M. Hemoglobin Fannin-Lubbock [α2β2 119(GH2) Gly > Asp]. A new hemoglobin variant at the α1 β1 contact. Biochem. Biophys. Acta 453 (1976) 472–477.
Schneider, R.G., Berkman, N.L., Brimhall, B. and Jones, R.T. Hemoglobin Fannin-Lubbock [α2β2 119(GH2) Gly >Asp]. A slightly unstable mutant. Biochem. Biophys. Acta 453 (1976) 478–483.
Qin, W.B., Pobedimskaya, D.D., Molchanova, T.P., Wilson, J.B., Gu, L.H., de Pablos, J.M. and Huisman, T.H. Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: beta 111 GTC > CTC (Val > Leu) and beta 119 GGC > GAC (Gly > Asp). Hemoglobin 18 (1994) 297–306.
Miller, S.A., Dykes, D.D. and Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16 (1988) 1215.
Chakraborty, A., Katarkar, A., Chaudhuri, K., Mukhopadhyay, A. and Basak, J. Detection of a novel mutation in exon 20 of the BRCA1 gene. Cell. Mol. Biol. Lett. 18 (2013) 631–638.
Bhattacharyya, D., Mukhopadhyay, A., Chakraborty, A., Dasgupta, S., Mukhopadhyay, S., Pal, N. and Basak, J. Incidence of the Hb E [β26 (B8) Glu > Lys, GAG > AAG] variant in Totos, one of the smallest primitive tribes in the world. Hemoglobin 37 (2013) 26–36.
Huisman, T.H.J. and Schroeder, W.A. New aspects of the structure, function and synthesis of hemoglobins. CRC Press, Cleveland, 1971, 11–27.
Ibarra, B., Aizpuru, E., Sánchez-López, J.Y., Morales, K.R., Perea, F.J. and Ruiz-Reyes, G. HB Fannin-Lubbock-I with a single GGC > GAC mutation at β119 (GH2) Gly > Asp in a homozygous Mexican patient. Hemoglobin 33 (2009) 492–497.
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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). https://doi.org/10.2478/s11658-014-0192-6
- Hb Fannin-Lubbock-I
- Brahmin family
- β-globin gene
- Rare mutation
- West Bengal