Publication: Haemoglobin Hope in a northern Thai family: First identification of homozygous haemoglobin Hope associated with haemoglobin H disease
Issued Date
2007-09-01
Resource Type
ISSN
16000609
09024441
09024441
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2-s2.0-34547820878
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Mahidol University
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SCOPUS
Bibliographic Citation
European Journal of Haematology. Vol.79, No.3 (2007), 251-254
Suggested Citation
Thanyachai Sura, Manisa Busabaratana, Supak Youngcharoen, Raewadee Wisedpanichkij, Vip Viprakasit, Objoon Trachoo Haemoglobin Hope in a northern Thai family: First identification of homozygous haemoglobin Hope associated with haemoglobin H disease. European Journal of Haematology. Vol.79, No.3 (2007), 251-254. doi:10.1111/j.1600-0609.2007.00907.x Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24769
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Title
Haemoglobin Hope in a northern Thai family: First identification of homozygous haemoglobin Hope associated with haemoglobin H disease
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Abstract
Haemoglobin (Hb) Hope [β136(H14)Gly→Asp(GGT→GAT)] is one of the unstable haemoglobin variants of the β-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 β-globin gene. Furthermore, we could identify that her brother carried the mutation of homozygous Hb Hope without abnormal α globin chain involvement, and another family member had heterozygous Hb Hope in association with -α3.7mutation, and both of them were clinically silent. © 2007 The Authors.