Detection of Hb anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese individuals

Hemoglobin. 2014;38(2):146-8. doi: 10.3109/03630269.2013.875477. Epub 2014 Jan 29.

Abstract

We have identified four Chinese individuals from three unrelated families with raised Hb A2 levels. The anti-Lepore hybrid hemoglobin (Hb) variant was amplified using a pair of primers, 5' to the β-globin gene Cap site and 3' to the δ-globin gene polyadenylation site (polyA) region, respectively. Direct sequencing of the βδ fusion products confirmed the anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) variant. We found that this anti-Lepore variant is positioned in zone 3 on the capillary electrophoresis system. It may help in differential diagnosis of Hb variants and providing better information in clinical counseling.

Publication types

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

MeSH terms

  • Adult
  • China
  • DNA Mutational Analysis
  • Electrophoresis, Capillary
  • Family Health
  • Female
  • Hemoglobin A2 / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Recombinant Fusion Proteins / genetics*
  • Recombinant Fusion Proteins / metabolism
  • Young Adult
  • beta-Globins / genetics
  • delta-Globins / genetics

Substances

  • Hemoglobins, Abnormal
  • Recombinant Fusion Proteins
  • beta-Globins
  • delta-Globins
  • hemoglobin anti-Lepore Hong Kong
  • Hemoglobin A2