Molecular and clinical characteristics of hemoglobin Ottawa detected in a Chinese population

Mol Med Rep. 2011 May-Jun;4(3):581-3. doi: 10.3892/mmr.2011.467. Epub 2011 Mar 22.

Abstract

Hemoglobin (Hb) Ottawa [α15 (A13) Gly→Arg], also known as Hb Siam, was first described in an 82-year-old Canadian in 1974. The same year, a second case was reported in a 28-year-old Chinese male living in Thailand. A third case was found in 1986 in a Chinese female living in the Hubei province of China. Since then, there have been no reports of Hb Ottawa in mainland China in the English literature. Hb Ottawa results from a GGT→CGT mutation in codon 15 of the α1 or α2-globin gene. Hb Ottawa carriers do not present any clinical symptoms or hematological changes, and are often diagnosed during a health examination and thalassemia screening. In a hemoglobin survey of 9745 students in Chaozhou, Guangdong, China, we identified four cases of Hb Ottawa in a thalassemia screening by Hb electrophoresis, and confirmed it to be the result of a GGT→CGT mutation in codon 15 of the α2-globin gene by DNA sequence analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • Base Sequence
  • Child
  • China
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Sequence Analysis, DNA
  • Young Adult

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Siam