Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family

Hum Genet. 1979 Nov;52(2):239-47. doi: 10.1007/BF00271579.

Abstract

A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal Hb was found to be coexistent with beta o thalassemia; two sisters had lowered MCV and MCH values and levels of the abnormal Hb significantly lower than in other heterozygotes for Hb G San José. The alpha-chain/total beta-chain synthesis ratios suggest an alpha-thalassemic-like effect. Their mother had lowered MCV and MCH values, an Hb A2 level in the upper limit of the normal range, and a balanced alpha-chain/beta-chain synthesis ratio. Therefore, the possibility of coexistence of an alpha thalassemia trait with a beta thalassemia trait in the mother of the proposita and with Hb G San José heterozygosity in the two sisters who had lowered levels of abnormal Hb is discussed.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Genetic Carrier Screening
  • Genetic Variation
  • Glutamates*
  • Glycine*
  • Hemoglobins, Abnormal / analysis*
  • Humans
  • Male
  • Pedigree
  • Sicily / ethnology
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Glutamates
  • Hemoglobins, Abnormal
  • Glycine