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α and β thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization
Author(s) -
Liang R.,
Liang S.,
Jiang N. H.,
Wen XJ.,
Zhao JB.,
Nechtman J. F.,
Stoming T. A.,
Huisman T. H. J.
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb04738.x
Subject(s) - beta thalassaemia , medicine , alpha thalassemia , thalassemia , beta thalassemia , hematology , pediatrics , disease , hemoglobinopathy , gastroenterology , genetics , biology , gene , genotype
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.