Skip to main content

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

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.

Abbreviations

ARMS:

amplification refractory mutation system

CBC:

complete blood count

Hb:

hemoglobin

HGMD:

Human Genome Mutation Database

HPLC:

high performance liquid chromatography

MCH:

mean corpuscular hemoglobin

MCHC:

mean corpuscular hemoglobin concentration

MCV:

mean corpuscular volume

NCBI:

National Centre for Biotechnology Information

PCR:

polymerase chain reaction

RBC:

red blood cell

RDW:

red cell distribution width

RFLP:

restriction fragment length polymorphism

WBC:

white blood cell

References

  1. 1.

    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.

    CAS  PubMed  Google Scholar 

  2. 2.

    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.

    CAS  PubMed  Google Scholar 

  3. 3.

    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.

    CAS  PubMed  Article  Google Scholar 

  4. 4.

    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.

    CAS  PubMed Central  PubMed  Article  Google Scholar 

  5. 5.

    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.

    CAS  PubMed  Article  Google Scholar 

  6. 6.

    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.

    CAS  PubMed  Article  Google Scholar 

  7. 7.

    Huisman, T.H.J. and Schroeder, W.A. New aspects of the structure, function and synthesis of hemoglobins. CRC Press, Cleveland, 1971, 11–27.

    Google Scholar 

  8. 8.

    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.

    CAS  PubMed  Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Jayasri Basak.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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

Download citation

Keywords

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