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, Karen Snow, Kathleen S. Kubik, Virgil F. Fairbanks, James D. Hoyer, Robert B. Fairweather, Sara Chaffee, William H. Edwards

Research output: Contribution to journalArticle

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)375-382
Number of pages8
JournalHemoglobin
Volume25
Issue number4
DOIs
StatePublished - Dec 1 2001

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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