Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia:: Practical implications for neonatal screening and genetic counseling

被引：9

作者：

Krishnamurti, L

CHui, DHK

Dallaire, M

LeRoy, B

Waye, JS

Perentesis, JP

机构：

[1] Univ Minnesota, Ctr Canc, Pediat High Risk Hematol Oncol Program, Sch Med,Dept Pediat, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Sch Med, Inst Human Genet, Minneapolis, MN 55455 USA

[3] McMaster Univ, Provincial Hemoglobinopathy DNA Diagnost Lab, Hamilton, ON, Canada

[4] McMaster Univ, Dept Pathol, Hamilton, ON, Canada

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(98)70319-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hemoglobin E (HbE), alpha-thalassemia, and beta-thalassemia are common among Southeast Asians and often occur in compound heterozygous states that complicate neonatal screening. We describe a kindred with alpha-thalassemia-1, HbE, and beta(0)-thalassemia. The proband had HbE/beta(0)-thalassemia, with severe anemia and failure to thrive. His father also had HbE/beta(0)-thalassemia but had coinherited a thalassemia-l and was free of symptoms.

引用

页码：863 / 865

页数：3

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