[Genetic detection and enzymatic analyses in α-thalassaemia patients with pyrimidine 5' nucleotidase deficiency].

Objective: To explore the clinical significance of genetic detection and changes of red cell enzyme activities of pyrimidine 5' nucleotidase (P5'N), pyruvate kinase (PK) and glucose-6-phosphate dehydrogenase (G-6-PD) in patients with α-thalassaemia (α-thal).

Methods: Three α-thal patients were further processed to gene detection by PCR-trans-dot blot and gap-PCR, and red cell enzymes activities by absorbance at 260 and 280 nm (A) for P5'N and fluorescence spot test for PK and G-6-PD.

Results: Red cells in 3 α-thal cases were microcytic hypochromic with obvious augmented target cells and basophilic stippling erythrocytes.

Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients.

The clinical characteristics of 357 patients with hemoglobin H (HbH) disease from the Guangxi province of Southern China were studied. One hundred and ninety-one (53.3%) patients were diagnosed with HbH-Constant Spring, 19 were diagnosed with HbH Westmead.

[Epidemiological investigation and genotype of thalassemia on middle school students in Chongzuo, Guangxi].

Objective: To investigate the carrier ratio and the genotype of thalassemia among students of secondary school in Chongzuo, Guangxi.

Methods: From June 10-20, 2008 among 7 regions of Chongzuo, 1 secondary school was randomly chosen from each region, and the number of student volunteers was determined by 0.5 per thousand proportion of the local population size.