α and β thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization

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Abstract
Summary We have studied nearly 100 patients with β thalassaemia major and 60 patients with Hb H disease who were attending the Haematology Clinic of Guangxi Medical College. Treatment of the patients was limited and only a few patients with β‐thalassaemia major received blood transfusion(s). As a result, the severe anaemia has led to early death at 3–4 years for β+‐thalassaemia homozygotes, and 8–12 years for β+‐thalassaemia homozygotes. Four β‐thalassaemia alleles are responsible for nearly 90% of all β‐thalassaemia chromosomes. This information has resulted in the initiation of a prenatal testing programme at the local level. The patients with Hb H disease maintained a haemoglobin level of 6–10 g/dl and early death was infrequently observed. The SEA deletion was the major type of α‐thalassemia‐1, while three smaller deletions (−2.7, −3.7 and −4.2 kb) and two nondeletional α‐thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the α‐thalassaemia‐2 types.