First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population

Hemoglobin. 2011;35(1):91-5. doi: 10.3109/03630269.2011.549071.

Abstract

We report the first heterozygous case of Hb A(2)-NYU (HBD:c.39T>A) in the Hellenic population. The proband, an adult female from the island of Crete, Greece, was identified during routine family screening. DEAE chromatography of the index case revealed a minor hemoglobin (Hb) fraction preceding the elution of the wild-type Hb A(2). DNA sequencing of the entire HBD gene coding regions indicated that the index case was heterozygous for the rare variant Hb A(2)-NYU. Family studies indicated that this Hb variant was inherited from the mother. This finding underlines the vast genetic heterogeneity of the HBD gene in the Hellenic population.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Female
  • Genotype
  • Globins / genetics*
  • Griechenland
  • Haplotypes
  • Hemoglobin A2 / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Genetic

Substances

  • Hemoglobins, Abnormal
  • Globins
  • Hemoglobin A2
  • hemoglobin NYU