TY - JOUR
T1 - Hb Dartmouth [α66(E15)Leu → Pro (α2) (CTG → CCG)]
T2 - A novel α2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian α-thalassemia-1
AU - McBride, Kim L.
AU - Snow, Karen
AU - Kubik, Kathleen S.
AU - Fairbanks, Virgil F.
AU - Hoyer, James D.
AU - Fairweather, Robert B.
AU - Chaffee, Sara
AU - Edwards, William H.
PY - 2001
Y1 - 2001
N2 - We 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.
AB - We 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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U2 - 10.1081/HEM-100107874
DO - 10.1081/HEM-100107874
M3 - Article
C2 - 11791870
AN - SCOPUS:0035543925
SN - 0363-0269
VL - 25
SP - 375
EP - 382
JO - Hemoglobin
JF - Hemoglobin
IS - 4
ER -