Summary
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 β-chain structural Hb variant, Hb G San José [β7 (A4) Glu→Gly], was observed: in the father of the porposita heterozygosity for the abnormal Hb was found to be coexistent with β° 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 α-chain/total β-chain synthesis ratios suggest an α-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 α-chain/β-chain synthesis ratio. Therefore, the possibility of coexistence of an α thalassemia trait with a β 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.
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Musumeci, S., Schilirò, G., Pizzarelli, G. et al. Hemoglobin G San José \({\text{[}}\beta _{\text{2}} {\text{(A4)Glu}} \to {\text{Gly}}\alpha _{\text{2}} {\text{],}}\)β thalassemia, and α thalassemia in a sicilian family. Hum Genet 52, 239–247 (1979). https://doi.org/10.1007/BF00271579
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DOI: https://doi.org/10.1007/BF00271579