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Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.

Abstract：

:Haemoglobin (Hb) Hope [beta136(H14)Gly-->Asp(GGT-->GAT)] is one of the unstable haemoglobin variants of the beta-globin chain, which is demonstrated in people of various ethnic backgrounds. Here we report a Thai female patient with clinical thalassaemia intermedia since childhood. This patient had experienced neither blood transfusion nor hospitalisation. Hb Bart's-H and a large amount of Hb Hope were identified by high-performance liquid chromatography (HPLC) assay and the diagnosis of homozygous Hb Hope was definitely achieved by direct sequencing of exon 3 of beta-globin gene. Furthermore, we could identify that her brother carried the mutation of homozygous Hb Hope without abnormal alpha globin chain involvement, and another family member had heterozygous Hb Hope in association with -alpha(3.7) mutation, and both of them were clinically silent.

journal_name

Eur J Haematol

journal_title

European journal of haematology

authors

Sura T,Busabaratana M,Youngcharoen S,Wisedpanichkij R,Viprakasit V,Trachoo O

doi

10.1111/j.1600-0609.2007.00907.x

subject

Has Abstract

pub_date

2007-09-01 00:00:00

pages

251-4

issue

3

eissn

0902-4441

issn

1600-0609

pii

EJH907

journal_volume

79

pub_type

杂志文章

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