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

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.