Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.
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.
D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005971:Glutamates; D005998:Glycine; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male; D010375:Pedigree; D012802:Sicily / Q000208:ethnology; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005971:Glutamates; D006455:Hemoglobins, Abnormal; D005998:Glycine