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

被引：19

作者：

McBride, KL

Snow, K

Kubik, KS

Fairbanks, VF

Hoyer, JD

Fairweather, RB

Chaffee, S

Edwards, WH

机构：

[1] Mayo Clin & Mayo Fdn, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA

[2] Mayo Clin & Mayo Fdn, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[3] Dartmouth Hitchcock Med Ctr, Dept Clin Pathol, Lebanon, NH 03756 USA

[4] Dartmouth Hitchcock Med Ctr, Dept Pediat, Lebanon, NH 03756 USA

来源：

HEMOGLOBIN | 2001年 / 25卷 / 04期

关键词：

D O I：

10.1081/HEM-100107874

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

We report a novel mutation at alpha(66E 15)Leu --> Pro (alpha2) (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 alpha-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for alpha-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.

引用

页码：375 / 382

页数：8

共 22 条

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