Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease
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 –α3.7 mutation, and both of them were clinically silent.
Document Type: Research Article
Affiliations: 1: Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand 2: Blood Disease Diagnostic Laboratory, Sirikit Medical Centre, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand 3: Division of Haematology-Oncology and WHO Collaborating Centre for the Control of Thalassemia and Haemoglobinopathies, Department of Paediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
Publication date: September 1, 2007