Variation in the level of fetal hemoglobin in (δβ)°-thalassemia heterozygotes with different numbers of α-globin genes

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Abstract
The Sicilian type of (αβ)°-thalassemia characterized by a ˜13 kb deletion, was present in a Turkish boy who is a homozygote and in his heterozygous parents who are first cousins. The father with ˜21% Hb F had five α-globin genes (αα/ααα) and the mother with ˜10% Hb F had an α-thal-2 heterozygosity (αα/-α). The difference in Hb F level is explained by a decreased formation of α2γ2 tetramers in the mother with an α-chain deficiency while the extra α-globin gene in the father will promote Hb F production.