Article
Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu].
Hemoglobin - 1 May 2000
Wajcman H, Drupt F, Henthorn J S, Kister J, Prehu C, Riou J, Promé D, Galactéros F
Abstract excerpt
Hb Bushey, found in a Chinese baby and his father, is a new variant with a point mutation leading to the substitution Phe-->Leu at position beta122. Hb Casablanca, found in a family from Morocco, is a further example of a hemoglobin variant that carries two abnormalities in the same chain; the first is identical to that of Hb Bushey and the second to that of Hb J-Antakya [beta65 (E9)Lys-->Met]. Structural...
Topics
- 2,3-Diphosphoglycerate
- Adult
- Amino Acid Substitution
- Asian People
- Chromatography, High Pressure Liquid
- Family Health
- Female
- Gas Chromatography-Mass Spectrometry
- Genetic Variation
- Globins