［Abstract］　Thalassemia is a group of hereditary monogenic diseases characterized by hemolytic anemia. In China, thalassemia mainly occurs in the areas south of the Yangtze River, among which Guangxi has the highest carrier rate, which is one of the most important factors leading to the increase of birth defects in Guangxi. In this paper, the current status and achievement of thalassemia in Guangxi in recent ten years are described. The three-level prevention and control strategies and government departments′ policy intervention measures for thalassemia prevention and control in Guangxi are introduced, and the suggestions for further strengthening the prevention and control of thalassemia are put forward.]]> 2020/11/3 8:38:30 LI You-qiong, HE Sheng, QIU Xiao-xia, et al. 7true ［Abstract］　Thalassemia is one of the most common autosomal recessive inherited blood diseases. The pathogenic mechanism is that gene defects in globin gene lead to reduced or absent production of one of the globin chains with relative excess of the others, causing an imbalance of α-chain/non-α-chain ratio and resulting in a group of hemolytic diseases. Up to now, there is no economic and effective cure for the disease. Through population molecular screening and genetic diagnosis, prenatal diagnosis for the fetuses of high-risk couples during pregnancy to avoid the birth of children with severe thalassemia is recognized as the first choice of preventive measures at home and abroad. Therefore, accurate and practical molecular diagnosis methods are the premise to realize the molecular screening, routine gene diagnosis and prenatal diagnosis in large population. In this paper, the recent advances in molecular diagnostic techniques of thalassemia are reviewed for reference.]]> 2020/11/3 8:38:30 HE Jun, QIN Jia-chun, ZHOU Wan-jun 6true ［Abstract］　Patients with hemoglobin H(HbH) disease are the largest group of thalassemia patients in China. HbH disease is the most difficult type to deal with in genetic counseling in high-incidence areas of thalassemia patients, and also the type that is difficult for clinicians to deal with when making blood transfusion treatment plans. The clinical manifestations of HbH disease varied widely among HbH disease patients. Most HbH disease patients have various complications and poor quality of life with the increase of age. Whether it is necessary to make prenatal diagnosis and termination of pregnancy, it is necessary to inform the patients well, and it is of great significance to play the role of preimplantation genetic diagnosis(PGD) technology. Various complications arising with the increase of age often need related multidisciplinary joint diagnosis and treatment, and the patients should be instructed to take routine physical examination once or twice a year to deal with new complications in time. The blood transfusion treatment plan for the patients should be focused not only on the current key issues, but also on growth, development and quality of life. The patients′ own factors, disease factors and the wishes of the patients or their parents should be taken into consideration when making the treatment plan of blood transfusion.]]> 2020/11/3 8:38:30 WANG Li, ZENG Li-hong, ZHANG Xin-hua 5true ［Abstract］　Non-transfusion-dependent thalassemia(NTDT) patients with long-term repeated blood transfusion are prone to produce alloantibodies. In this paper, the definition, diagnostic criteria and indications of transfusion of NTDT, and the prevention and treatment of alloimmunity caused by repeated blood transfusion are reviewed, and the characteristics and transfusion strategies of NTDT are summarized.]]> 2020/11/3 8:38:30 LI Jing, CHEN Yao-peng, YIN Xiao-lin 4true ［Abstract］　Objective　To analyze the changes of prenatal diagnosis of thalassaemia in a tertiary maternal and child health care hospital in Guangzhou city during 2011 and 2019. Methods　From January 2011 to December 2019, the prenatal diagnosis cases of thalassemia were selected. The changes of the number of prenatal diagnosis per year for the fetuses at high risk of Hb Bart′s syndrome, non-deletional HbH disease(HbH-CS, HbH-QS) or moderate to severe β-thalassemia were respectively analyzed. The gestational weeks at prenatal diagnosis were divided into 10～14 weeks, 15～19 weeks, 20～24 weeks and ≥25 weeks, and the distribution characteristics of each gestational week per year were analyzed statistically. Results　Prenatal diagnosis of thalassemia genes was performed on 4 325 pregnant women, among whom 2 330 cases were at high risk of Hb Bart′s syndrome, 259 cases at high risk of HbH disease and 1 736 cases at high risk of moderate to severe β-thalassemia. The prenatal diagnosis of non-deletional HbH disease accounted for approximately 10.0% of α-thalassemia. The annual distribution of gestational weeks for prenatal diagnosis of α-thalassemia was mainly 10～14 weeks, accounting for 49.3%～73.6% of the whole year, but the proportion of the prenatal diagnosis cases of 10～14 gestational weeks of β-thalassemia in the total number of prenatal diagnosis cases during all gestational weeks of the year increased gradually from 35.1% to 63.9%. Conclusion　The proportion of prenatal diagnosis of thalassemia in early pregnancy, especially prenatal diagnosis of β-thalassemia, has been greatly increased. Effective prenatal diagnosis of early pregnancy helps to reduce the birth rate of children with severe types of thalassemia and is the key to reduce other complications for pregnant women.]]> 2020/11/3 8:38:30 XU Li-li, ZHEN Li, HAN Jin, et al. 3true ［Abstract］　Objective　To analyze the expression differences of hemoglobin(Hb) New York in different age groups carrying Hb New York. Methods　One hundred and three thousand three hundred and fifty-one peripheral blood samples and umbilical cord blood samples, and 55 909 peripheral blood samples of newborns were collected from the subjects who had a physical examination or received treatment in our hospital during October 2017 and March 2020. The samples with Hb New York screening results were performed for hematological analysis and genotyping. Results　A total of 185 samples carrying Hb New York were collected, including 4 cases of umbilical cord blood, 58 cases of newborns and 123 cases of adults. The content of Hb New York was (1.30±0.94)% in the fetal umbilical cord blood, (7.87±6.21)% in the newborns, and (43.30±2.83)% in the adults. The parameters of hematology of the adults carrying Hb New York were within the normal reference ranges. Except mean corpuscular hemoglobin concentration(MCHC), there were significant differences in other parameters between the adults carrying Hb New York and the normal control group. Genotyping showed that Hb New York heterozygotes in 167 cases, Hb New York/α-thalassaemia silence compound heterozygous in 7 cases, and Hb New York/α-thalassaemia trait compound heterozygous in 11 cases. Conclusion　The content of Hb New York is different in people of different ages, which is positively correlated with the expression of β globin gene.The carriers have normal hematological phenotypes and are prone to anemia in combination with thalassemia, which is worthy of attention in thalassemia screening and genetic counseling of premarital and pregnant examinations.]]> 2020/11/3 8:38:30 ZHOU Chao-fan, ZUO Yang-jin, CHEN Qiu-li, et al. 2true ［Abstract］　Objective　To investigate the detection of the HKαα in combination with Southeast Asia deletion thalassemia using routine thalassemia gene kits. Methods　Twenty-eight thousand four hundred and thirty-five patients receiving thalassemia gene diagnosis in our hospital from 2012 to 2019 were retrospectively analyzed. Among the 28 435 patients, eight samples with three bands(-α^3.7, normal α2 alleles and --^SEA) appearing in the agarose electrophoresis were selected. Blood cell analysis and hemoglobin electrophoresis were used in screening thalassemia. Gap polymerase chain reaction(Gap-PCR) was used to detect deletions of α-thalassemia genes, and PCR-reverse dot blot hybridization was used to detect non-deleted α-thalassemia genes(using two manufacturers′ kits). HKαα was identified by two-round nested PCR. Results　The genotypes of the patients with three bands screened out by using routine thalassemia gene kit(Gap-PCR) were identified as HKαα/--^SEA, accounting for 0.03% of the thalassemia gene diagnosis. The hematological phenotype of HKαα/--^SEA was mainly reflected in the decrease of mean corpuscular volume(MCV) and mean corpuscular hemoglobin(MCH), and no anemia was found, and most of HbA₂ was in the reference range. Conclusion　The routine thalassemia gene testing kit(Gap-PCR) can effectively screen out HKαα/--^SEA genotype, providing guidance for genetic counseling and prenatal diagnosis.]]> 2020/11/3 8:38:30 LIANG Liang, ZHAO Lin, TIAN Mao, et al. 1true