[Analysis and Prevention of Gene Mutation Types of Severe Thala- ssemia in Hakka People in Gannan of Jiangxi Province].

OBJECTIVE: To investigate the types and proportion of gene mutations of thalassemia in Hakka people in Gannan Area of Jiangxi, and to provide some references for prevention and treatment of thalassemia major, genetic counseling and epidemiological studies. METHODS: 81 cases Hakka patients with severe thalassemia admitted treated in First Affiliated Hospital of Gannan Medical College from January 2009 to June 2019 were enrolled. The deletion type of α-thalassemia was detected by Gap-PCR. The point mutations of α-thalassemia and ß-thalassemia were detected by PCR-RDB. The thalassemia gene was detected and analyzed in the patients with anemia, and the frequency of gene mutation was calculated. RESULTS: Among 81 Hakka patients with thalassemia major, 4 ß-thalassemia (homozygote) genotypes were detected out, including: CD41-42（TTCT）(19 cases), ß-IVS-II-654 (C→T) (9 cases), -28M (A→G) (1 case), CD17 (A→T) (1 case); 12 ß-thalassemithalassemia (heterozygote) genotypes were detected out, including: CD41-42(-TTCT)/ß-IVS-II-654(C→T) (15 cases, 29.41%), ß-IVS-II-654(C→T)/ß-28M(A→G) (13 cases，25.49%) ； CD41-42(-TTCT)/ß-28M(A→G) (9 cases，17.65%); ß-IVS-II-654(C→T) /CD27/28(+C) (3 cases， 5.88%) ； CD41-42(-TTCT)/CD27/28(+C)(3 case，5.88%)；ß-28M(A→G)/CD17(A→T) (2 cases，3.92%)；CD41-42(-TTCT)/CD17(A→T), CD41-42(-TTCT)/Βe, ß-IVS-II-654(C→T)/ß-29、ßCD17（A→T）/CD71-72(+a), ßCD71-72/ß-28M(A→G), ß-28M(A→G) /ß-IVS-II-654(C→T)(1 cases，1.96%). There were 3 cases of ß homozygous thalassemia with α-thalassemia gene and 5 cases of ß heterozygotes thalassemia with α-thalassemia gene. CONCLUSION: The incidence rate of thalassemia in Hakka people in Gannan Area of Jiangxi is relatively high. The distribution of gene mutation types is as follows: the genotype of CD41-42 (-TTCT) is the main genotype of ß-thalassemia (homozygous); the major genotypes of ß- thalassemia (heterozygotes) are CD41-42 (-TTCT)/ß-IVS-II-654 (C→T) and ß-IVS-II-654 (C→T) /ß-28M (A→G); CD41-42 (-TTCT) gene is dominant in ß-complex α-thalassemia.

[Effects of Different Routes in PMSC Transfusion on the Levels of Hematopoietic Regulatory Factors in Aplastic Anemia Rats].

OBJECTIVE: To investigate the effects of different routes in placental mesenchymal stem cells (PMSC) on serum expression levels of IL-4, IL-17, TNF-α and IFN-γ in aplastic anemia (AA) rats. METHODS: The rat model of aplastic anemia (AA rats) was established by 5-fluorouracil combined with busulfan. The rats was divided into four groups: control, experimental, PMSC-injected into the tail vein, and PMSC-injected into the medullary cavity. The general state of rats in each group was observed in detail before and after treatment. The serum levels of interleukin-4 (IL-4) , interleukin-17 (IL-17), tumor necrosis factor-α (TNF-α), interferon-γ (IFN-γ) were measured by enzyme-linked immunosorbent assay (ELISA) at week 1, 3 and 5 after treatment. RESULTS: The serum levels of TNF-α, IFN-γ and IL-17 in the experimental group were significantly higher than those in the control group, while the level of IL-4 was significantly decreased (P＜0.05). The levels of TNF-α, IFN-γ and IL-17 gradually decreased after treatment while the level of IL-4 increased. By the fifth week, the above indexes were closed to the control group (P＞0.05), and the levels of TNF-α, IFN-γ and IL-17 in the group with PMSCs injected via the medullary cavity decrease more significantly than those group with PMSC injected via the tail vein, but level of IL-4 was not significantly different between two groups. CONCLUSION: The level of serum hematopoietic negative regulators increase significantly, and the level of hematopoietic promoting factors decreases significantly in aplastic anemia rats. PMSC can down-regulate the level of hematopoietic negative regulators and up-regulate the level of hematopoietic promoting factors in the rats with aplastic anemia, and the inhibition of hematopoietic negative regulators by intramedullary injection is more significant than that by caudal vein injection.

Zidovudine- versus Tenofovir-Based Antiretroviral Therapy for the Initial Treatment of HIV Infection in the Ethnic Minority Region of Liangshan Prefecture, Sichuan Province, China.

BACKGROUND: Tenofovir (TDF)-based highly active antiretroviral therapy (HAART), as recommended by the World Health Organization guidelines for HIV-naive patients, has been limited in resource-constrained settings. The aim of this study was to evaluate the effectiveness of zidovudine-(ZDV) versus TDF-based HAART in the Yi minority region of Sichuan Province, China at a single HIV treatment center. METHODS: The primary end point was the attainment of an HIV viral load <50 copies/mL. Secondary end points included change in CD4 level, adverse reactions, mortality, and sustained virologic suppression. RESULTS: Of the 361 total participants, recipients of TDF-based HAART were more likely to achieve viral load <50 copies/mL (60% versus 46%, odds ratio [OR] = 1.7, P = .016) as well as sustained virologic suppression (61% versus 28%, OR = 3.4, P = .001). Tenofovir (adjusted odds ratio [ORadj] = 1.71, P = .025) and female sex (ORadj = 1.93, P = .003) were identified as independent predictors of achieving HIV viral load <50 copies/mL in the multivariate logistic regression analysis. CONCLUSION: Among Chinese Yi minority HIV-infected participants, TDF-based HAART was superior to ZDV-based HAART for initial treatment of HIV infection, suggesting TDF-based HAART should be the regimen of choice in China.

[Sharing of needles and paraphernalia injection in new and long-term injection drug users in Sichuan, China].

OBJECTIVE: To examine the prevalence and correlates for needle-sharing among new and long-term injection drug users (IDUs) in Sichuan province, China. METHODS: Three consecutive cross-sectional surveys were conducted in 6 prefectures of Sichuan province, from 2003 to 2005. Questionnaire-based interviews provided information including socio-demographics, drug-use, sexual behaviors, and HIV-related services. Multivariable logistic regression methodology was used for data analysis. RESULTS: Of 3852 eligible participants, the rates of needle-sharing in the last 6 months for IDUs with a less than one year, one to three year, and more than three year injection history were 19.9%, 29.1%, and 36.3%, respectively. Needle-sharing for IDUs with a less than one-year injection history was independently associated with factors as: being female, having minority background, higher frequency of injection, sharing injecting equipments, ever having had a non-regular sex partner, or a regular sex partner who injected drugs, never had a test on HIV, being recruited in 2005, and from Zigong prefectures of Sichuan. Needle-sharing for IDUs with a 1-3 year injection history were independently associated with receiving less education, having higher frequency of injecting behavior, sharing injecting equipments, ever having had a non-regular sex partner/a regular sex partner who injected drugs, ever having had unprotected sex with a non-regular sex partner, ever having had unprotected sex with a commercial sex partner or client, never attended skill training for HIV/STD prevention, being recruited in 2005 and 2004, and being recruited from Deyang, Zigong, and Liangshan prefectures. Needle-sharing for IDUs with a more than three-year injection history was independently associated with factors as: less education, higher frequency of injecting, sharing injecting equipment, ever had a non-regular sex partner, ever had unprotected sex with a non-regular sex partner, ever had unprotected sex with a commercial sex partner or client, having had regular sex partners who inject drugs, never attended needle exchange programs, being recruited in 2005 and 2004, and being recruited from Deyang, Zigong, and Liangshan prefectures. CONCLUSION: The rates for both needle/paraphernalia sharing and unprotected sex behaviors were high in the IDUs in Sichuan province. These rates were higher among longer-term IDUs than in new IDUs. Our data underlined that better targeted, in-depth and sustained comprehensive intervention packages which including needle exchange, condom promotion along with distribution, and education, were urgently needed to reduce both IDU-related and sex-related risk behaviors among both new and longer term IDUs.