First Report of Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] from Odisha, India

Hemoglobin. 2016 Nov;40(6):422-424. doi: 10.1080/03630269.2016.1275676.

Abstract

In this short report, we describe the clinical presentation of a rare hemoglobin (Hb) variant, Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] with a faster electrophoretic mobility than Hb A and that elutes in the P3 window on cation exchange high performance liquid chromatography (HPLC). This sequence variation at codon 8 (AAG>AAC) of the HBB gene was found in the four heterozygous cases, all of whom were clinically asymptomatic.

Keywords: Alkaline electrophoresis; DNA sequencing; Hb Limassol; cation exchange high performance liquid chromatography.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Chromatography, High Pressure Liquid
  • Codon
  • Electrophoresis
  • Female
  • Genetic Variation*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • India
  • Male
  • Pedigree
  • beta-Globins / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin Limassol