Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; First report and potential diagnostic pitfalls

被引：11

作者：

Edison, ES ^{[1
]}

Shaji, RV ^{[1
]}

Srivastava, A ^{[1
]}

Chandy, M ^{[1
]}

机构：

[1] Christian Med Coll & Hosp, Dept Haematol, Vellore 632004, Tamil Nadu, India

来源：

HEMOGLOBIN | 2005年 / 29卷 / 03期

关键词：

Hb E; Hb Lepore-Hollandia; India;

D O I：

10.1081/HEM-200066327

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A compound heterozygous state of Hb E [beta 26(B8)Glu -> Lys] with Hb Lepore is rare with very few cases reported in the literature. This report describes the first such case from India. The clinical features and hemoglobin (Hb) analysis mimic Hb E-beta-thalassemia (thal) but with a mild phenotype. Detection was made possible in this case because DNA analysis gave discrepant results suggestive of homozygous Hb E. As this was inconsistent with the clinical phenotype and Hb analysis, further evaluation was undertaken that confirmed the presence of Hb Lepore. This study shows that cases of Hb E/Lepore may remain undetected unless family studies and/or detailed DNA analyses in patients diagnosed to have Hb E-beta-thal are performed.

引用

页码：221 / 224

页数：4

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