Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A]

Hemoglobin. 2014;38(3):207-10. doi: 10.3109/03630269.2014.881371. Epub 2014 Jan 29.

Abstract

Of the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C > A] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G > A] called Hb Madison-NC.

Keywords: Hemoglobin; new; variant.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Codon / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype*
  • alpha-Globins / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins