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

Kim L. McBride Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, U.S.A.

Karen Snow Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, Rochester, MN, 55905, U.S.A.

Kathleen S. Kubik Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, Rochester, MN, 55905, U.S.A.

Virgil F. Fairbanks Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, Rochester, MN, 55905, U.S.A.

James D. Hoyer Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, Rochester, MN, 55905, U.S.A.

Robert B. Fairweather Department of Clinical Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH, 03756, U.S.A.

Sara Chaffee Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, NH, 03756, U.S.A.

William H. Edwards Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, NH, 03756, U.S.A.

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Abstract

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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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

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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

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