Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.
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.
Sura
Thanyachai
T
Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Busabaratana
Manisa
M
Youngcharoen
Supak
S
Wisedpanichkij
Raewadee
R
Viprakasit
Vip
V
Trachoo
Objoon
O
D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D013785:Thailand; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D006447:Hemoglobin H; C038623:hemoglobin Hope; C030448:hemoglobin Bart's