Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization.
We have studied nearly 100 patients with beta-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 beta-thalassaemia major received blood transfusion(s). As a result, the severe anaemia has led to early death at 3-4 years for beta zero-thalassaemia homozygotes, and 8-12 years for beta(+)-thalassaemia homozygotes. Four beta-thalassaemia alleles are responsible for nearly 90% of all beta-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 alpha-thalassemia-1, while three smaller deletions (-2.7, -3.7 and -4.2 kb) and two nondeletional alpha-thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the alpha-thalassaemia-2 types.
Liang
R
R
Guangxi Medical College, Nanning, P.R. China.
Liang
S
S
Jiang
N H
NH
Wen
X J
XJ
Zhao
J B
JB
Nechtman
J F
JF
Stoming
T A
TA
Huisman
T H
TH
D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002681:China; D002872:Chromosome Deletion; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006447:Hemoglobin H / Q000032:analysis; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D008297:Male; D009154:Mutation; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin; D006447:Hemoglobin H; C030448:hemoglobin Bart's