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Hemoglobin
international journal for hemoglobin research
Volume 25, 2001 - Issue 4
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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

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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Pages 375-382 | Received 20 Mar 2001, Accepted 17 Jul 2001, Published online: 07 Jul 2009
 
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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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