Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

Different hematological phenotypes cause

Different hematological phenotypes caused by the interaction of triplicated α-globin genes and heterozygous β-thalassemia

✍ Camaschella, C.; Kattamis, A.C.; Petroni, D.; Roetto, A.; Sivera, P.; Sbaiz, L.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 1 views

The pathophysiology and clinical severity of ␤-thalassemia are related to the degree of ␣/non-␣-chain imbalance. A triplicated ␣-globin gene locus can exacerbate effects of excess ␣-chains caused by a defective ␤-globin gene, although this is not observed in all cases. Extensive studies on this cond