Hb DARTMOUTH [α66(E15)Leu → Pro (α2) (CTG → CCG)]: A NOVEL α2-GLOBIN GENE MUTATION ASSOCIATED WITH SEVERE NEONATAL ANEMIA WHEN INHERITED IN TRANS WITH SOUTHEAST ASIAN α-THALASSEMIA-1
2001; Taylor & Francis; Volume: 25; Issue: 4 Linguagem: Inglês
10.1081/hem-100107874
ISSN1532-432X
AutoresKim L. McBride, Karen Snow, Kathleen S. Kubik, Virgil F. Fairbanks, James D. Hoyer, Robert B. Fairweather, Sara Chaffee, William H. Edwards,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoWe report a novel mutation at α66(E15)Leu → Pro (α2) (CTG → CCG), that we have named Hb Dartmouth for the medical center at which the patients were cared for, in monozygotic twins who also inherited the Southeast Asian α-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for α-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion.
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