Hemoglobin G San José({ ext{[}}eta _{ ext{2}} { ext{(A4)Glu}} o { ext{Gly}}alpha _{ ext{2}} { ext{],}})β thalassemia, and α thalassemia in a sicilian family
✍ Scribed by S. Musumeci; G. Schilirò; G. Pizzarelli; L. Tentori; M. Marinucci; P. P. Fontanarosa; G. Russo
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 485 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
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.