First Report of a Coincidental Discovery of Hb Antibes-Juan-Les-Pins (HBB: c.349_350insGTGTGCTGGCCC) in a Greek Woman

Hemoglobin. 2020 Sep;44(5):361-363. doi: 10.1080/03630269.2020.1813160. Epub 2020 Dec 2.

Abstract

The rare Hb Antibes-Juan-Les-Pins (HBB: c.349_350insGTGTGCTGGCCC) was first reported in France. Hb Antibes-Juan-Les-Pins seems to be an innocuous variant and few published data are available. Heterozygous carriers have mild clinical or hematological findings. The abnormal hemoglobin (Hb) is detected by high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CZE), but confirmation of the variant requires molecular analysis. This is the first description of Hb Antibes-Juan-Les-Pins heterozygosity in a woman of Greek origin.

Keywords: Hb Antibes-Juan-Les-Pins; thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Alleles*
  • Chromatography, High Pressure Liquid
  • Exons
  • Female
  • Greece
  • Hemoglobins, Abnormal / genetics
  • Heterozygote
  • Humans
  • Mutation*
  • Sequence Analysis, DNA
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • beta-Globins