[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. Two patients had anemia, splenomegaly, hyperbilirubinemia and augmented LDH. HbH was positively identified by hemoglobin electrophoresis and hemoglobin cellulose acetate membrane electrophoresis; the other patient had no such abnormalities. Genotypes of 3 patients were of (-α(3.7)/--(SEA)), (αα(QS)/--(SEA))and (--(SEA)), respectively. The activity of P5'N (but not for PK and G-6-PD) in red cell reduced. CONCLUSIONS: This is the first documented α-thal with P5'N deficiency. Genetic detection might be clinical significant for the diagnosis and pedigree screening of α-thal.

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. Ten patients were shown to have coinherited HbH-Constant Spring/QS with a ß-thalassemia mutation. Coinheritance of the ß-thalassemia gene does not alleviate anemia (8.2 ± 2.3 vs. 7.6 ± 1.7 g/dl, p = 0.276), or influence age at diagnosis (20.2 ± 19.6 vs. 12.9 ± 11.0 years, p = 0.276). Ferritin levels were significantly higher in the group of patients with the nondeletional form of the disease (475 ± 719 vs. 249 ± 264 ng/ml, p = 0.005).

[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. 1097 students were screened, including 515 boys and 582 girls of 12-16 year olds. Among them, 968 cases were Zhuang (438 boys and 530 girls) 128 cases were Han (76 boys and 52 girls) and one case was Yao nationalities (boy). Analysis of blood cells was detected by Cell Dyn 1700 automatic hemocyte analysator while hemoglobin F (HbF) and hemoglobin A2 (HbA2) were detected by hemoglobin autoanalyse variant. Among those with HbA > or = 4% that belonged to beta-thalassemia before alpha and beta-thalassemia gene were analyzed to identify the genotypes. If HbA2 was <4% but MCV< or = 80 fl, alpha-thalassemia gene was analyzed. RESULTS: Among 1097 cases, 218 were alpha-thalassemia (19.87%), 50 were beta-thalassemia (4.56%) and 13 were combination of alpha beta-thalassemia (1.19%). The overall detected ratio was 25.62%. 133 cases with thalassemia were boys (25.83%) and 148 were girls (25.43%) with no significant difference (P>0.05). 255 cases of thalassemia were Zhuang (26.34%), and 25 were Han nationality (19.52%). The detected ratio among Zhuang nationality was higher than in Han nationality and with significant difference statistically (P<0.01). 3 kinds of deletion (-alpha(3.7)/, -alpha(4.2)/, --(SEA)/) and another 3 kinds of non-deletion (alpha alpha(CS)/, alpha alpha(WS)/, alpha alpha(QS/) alpha-thalassemia genotype were identified, with a higher rate of alpha alpha(WS)/. Among the beta-thalassemia genotype, CD41-42 appeared the most common genotype. MCV of thalassemia was lower than in the controls, with significant difference (P<0.01). 78-90 fl of alpha-thalassemia was detected from the MCV specimen. If taken MCV<79 fl as the positive phenotype of thalassemia, 32 cases were misdiagnosed. The rate of missed diagnosed cases was 2.97%. CONCLUSION: Rate of thalassemia carrier among students of secondary school in Chongzuo, Guangxi was considered to be high, especially those belonged to Zhuang nationality were higher than the Hans. The carrier rate of alpha alpha(WS)/ was higher, with CD41-42 the most common genotype.