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).

Observations on after-effect duration of kidney-nourishing and marrow-replenishing therapy on 58 cases of Mediterranean anemia.

OBJECTIVE: To observe the after-effect duration of kidney-nourishing and marrow-replenishing therapy on Mediterranean anemia. METHODS: To observe the kidney-nourishing and marrow-replenishing therapy on 58 cases of Mediterranean anemia and the influence of various relative factors on the after-effect duration. RESULTS: The after-effect duration on 58 cases varied from 3-6 months, about 4 months on average, and was not influenced by sex, clinical types, genetic types, types of Mediterranean anemia and other factors. CONCLUSION: Kidney-nourishing and marrow-replenishing therapy used to treat Mediterranean anemia can not only produce good therapeutic effect during treatment but also keep after effect lasting for about 4 months, indicating that the therapy used to treat Mediterranean anemia has good clinical after effect.

[A family survey of syndromes of traditional Chinese medicine in patients with beta-thalassemia].

OBJECTIVE: To explore the relationship between syndromes of traditional Chinese medicine (TCM) and genetic background in patients with beta-thalassemia. METHODS: TCM syndromes were surveyed in the selected 78 patients with beta-thalassemia intermedia including 120 parents. The gene mutations were detected separately. The frequency and score of TCM syndromes between the offspring and their parents in different family types were analyzed, and the differences were compared. RESULTS: The 73 families were divided into two family types by hereditary characteristics. Family type one meant that genotypes of one of the parents were normal, while the offspring genotypes were heterozygous and were exactly the same as another parent. In the 22 families of type one, the heterozygous offspring manifested 6 high-frequency symptoms and signs such as spontaneous perspiration, dry mouth and dry throat, pale or sallow complexion, tidal fever and night sweating, lassitude and pale fingernails. The heterozygous parents manifested 5 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, aversion to cold and cold limbs, tinnitus, dry mouth and dry throat. The normal parents manifested 3 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, and spontaneous perspiration. TCM syndrome score in the heterozygous offspring was higher than that in the heterozygous and normal parents, but there was no significant difference (P>0.05). Family type two meant that genotypes of both parents were heterozygous, while the offspring genotypes were heterogenic duplex heterozygotes. In the 51 families of type two, the offspring manifested 9 high-frequency symptoms and signs such as pale or sallow complexion, spontaneous perspiration, dry mouth and dry throat, pale fingernails, tidal fever and night sweating, lassitude, frequent attack of common cold, dysphoria with feverish sensation in chest, and yellow discoloration of the skin and sclera. The parents manifested 3 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, aversion to cold and cold limbs. TCM syndrome score in the offspring was significant higher than that in the parents (P<0.01). CONCLUSION: In the two family types, TCM syndrome in the offspring is of yin-blood deficiency, while the syndrome of the parents is of kidney deficiency. The differences of TCM syndromes between the offspring and the parents may have some relations to the type of mutant genes and genetically modified ingredients. This research provides scientific evidence to TCM syndrome differentiation treatment of thalassemia.

[Clinical observation of Yisui Shengxue Granule in treating 25 patients with hemoglobin H disease].

OBJECTIVE: To investigate the clinical efficacy and safety of Yisui Shengxue Granule (YSSXG), a compound traditional Chinese herbal medicine for reinforcing kidney and nourishing blood, in treating hemoglobin H (HbH) disease. METHODS: YSSXG was given orally to 25 patients with HbH disease in Guangxi Zhuang Autonomous Region (high incidence area for HbH disease in China) for 3 months as one therapeutic course, 3 times a day, 10 g YSSXG was given each time (dose of YSSXG for children should be reduced properly), and blood transfusion was not given to HbH patients during the course of treatment. The levels of hemoglobin (Hb), red blood cell (RBC), HbH and reticulocyte (Ret) were observed before and after YSSXG treatment, and side effects were observed during the course of treatment. Meanwhile, the genotype was examined, and the clinical efficacy of YSSXG in treating HbH patients with different genotype was evaluated. RESULTS: The levels of Hb, RBC and Ret were obviously increased after YSSXG treatment from the first month to the end of treatment (P<0.01). After YSSXG treatment, the levels of Hb, RBC, Ret in 12 HbH patients with gene deletion were elevated (P<0.05, P<0.01), and the levels of Hb and Ret in 13 HbH patients with gene non-deletion were increased obviously (P<0.05, P<0.01). The total response rate was 84% after 3-month treatment, and there was no statistical difference in clinical efficacy between gene deletion HbH patients and non-deletion HbH patients. No adverse effect was observed during the course of treatment. CONCLUSION: YSSXG is effective and safe for treatment of HbH disease. YSSXG can improve the levels of Hb, RBC and Ret in HbH patients, especially in gene deletion HbH patients.

Effect of Yisui Shengxue Granule () on the oxidative damage of erythrocytes from patients with hemoglobin H disease.

OBJECTIVE: To investigate the effect of Yisui Shengxue Granule (, YSSXG), a complex Chinese medicine, on the oxidative damage of erythrocytes from patients with hemoglobin H (HbH) disease. METHODS: Twenty-two patients with HbH disease and 22 healthy volunteers were observed. YSSXG was given to patients with HbH disease for 3 months. Before and after the 3-month treatment, blood parameters [hemoglobin (Hb), red blood cells (RBCs), and reticulocyte percent (Ret)] were examined; inclusion bodies in erythrocytes were observed by transmission electron microscopy (TEM); activities of antioxidant defense enzymes [superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), and catalase (Cat)] and erythrocyte membrane malondialdehyde (MDA) concentrations were determined. RESULTS: In patients with HbH disease, measured values of RBC and Hb obtained from the first to the third months after treatment with YSSXG were significantly higher than before treatment (P<0.01). Measured values of Ret from the second to the third months after treatment were significantly lower than before treatment (P<0.05 and P<0.01, respectively). Prior to treatment with YSSXG, TEM images of RBCs showed the presence of numerous inclusion bodies. After treatment with YSSXG, the amount and volume of inclusion bodies decreased. Treatment with YSSXG also led to a significant increase in SOD activity (P<0.01), a decrease in Cat activity (P<0.01), and no significant differences in GSHPx activity (P>0.05) or MDA concentration (P>0.05). However, compared with the healthy counterparts, SOD, GSH-Px, and Cat activities presented at high levels (P<0.01) both before and after treatment. CONCLUSIONS: YSSXG could improve the degree of hemolysis and anemia in patients with HbH disease. The mechanism may be related to its antioxidative effects, which could elevate the activity of total SOD in erythrocytes and efficiently inhibit the oxidative precipitation of ß-globin chains.

[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.

[Study on the screening program of thalassemia and the genotype and hematologic parameter among people of productive age in a village, Nanning Guangxi].

OBJECTIVE: To investigate the carrier ratio and the genotype of thalassemia in the rural people of reproductive age in Nanning, and to analyze the characteristics of hematologic parameter in thalassemia carriers. METHODS: 2044 cases of productive age youths were detected with hemoglobin autoanalyse-Variant (HPLC) and Cell Dyn 1700 automatic hemocyte analysator. Among them,430 cases (75 couples randomly selected in thalassemia screening, 140 couples who were told that one or both of them were positive for thalassemia phenotype through hemocyte analysis) carried out thalassemia gene detection in synchronism. RESULTS: 163 cases were detected beta-thalassemia and the thus beta-thalassemia carrier ratio was 7.97%. 13 cases were detected HbH disease, and 2 cases Hb Manitoba, 2 cases HbJ, and 1 case HbQ. As for genotypes,-alpha (3.7)/alpha,-alpha(CS)/alphaalpha and -alpha(WS)/alphaalpha were common ones with in alpha-thalassemia-2, --(SEA)/alphaalpha the most common one in alpha-thalassemia-1, and 41-42 were the most common ones in beta-thalassemia heterozygotes. The detection ratio of alpha,beta combination thalassemia was also relatively high. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were low in all cases of HbH disease and beta-thalassemia, also low in 86 cases of alpha-thalassemia-1 with the exception of normal MCH in 1 case, yet normal in 17 cases out of 66 cases of alpha-thalassemia-2. HbF raised in 32 cases out of 69 cases of beta-thalassemia heterozygote, no case showed raised HbF without the raise of HbA2. Hematologic characteristic of alpha, beta combination thalassemia was mainly caused by beta-thalassemia. CONCLUSION: Carrier ratio of thalassemia in rural productive age youths in Nanning was high while alpha-thalassemia-2 with the genotype -alpha(WS)/alphaalpha and -alpha(CS)/ alphaalpha were common. To those with low MCV and MCH in high-risk region, thalassemia should be suspected.