| 6 |
RENZO GALANELLO. Recent advances in the molecular understanding of non-transfusion-dependent thalassemia[J]. Blood reviews, 2012, 26 Suppl 1: S7-S11.
|
| 7 |
杨阳, 张杰. 中国南方地区地中海贫血研究进展[J]. 中国实验血液杂志, 2017, 25 (1): 276-280.
|
| 8 |
谢武琼. 地中海贫血基因检测及干预研究进展[J]. 中国优生与遗传杂志, 2016, 24(8): 4-6.
|
| 9 |
麦凤鸣, 颜双鲤. 地中海贫血筛查指标的分析评价[J]. 中华全科医学, 2013, 11(3): 350, 387.
|
| 10 |
付月, 刘文君. 地中海贫血实验室诊断研究进展[J]. 中国实验血液学杂志, 2018, 26(2): 631-636.
|
| 11 |
中华医学会围产医学分会, 中华医学会妇产科学分会产科学组. 地中海贫血妊娠期管理专家共识[J]. 中华围产医学杂志, 2020, 23(9): 577-584.
|
| 12 |
彭杨. 地中海贫血基因诊断指导优生优育的价值研究[J]. 中国医药科学, 2018, 8(23): 218-220.
|
| 13 |
庄倩梅, 刘小龙, 黄海龙, 等. 4种地中海贫血筛查模式的应用效果比较[J]. 检验医学, 2021, 36(2): 173-176.
|
| 14 |
ZHAO M, CHEN M, LEE C G, et al. Identification of novel microsatellite markers <1 mb from the HTT CAG repeat and development of a single-tube tridecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of Huntington disease[J]. Clinical chemistry, 2016, 62(8): 1096-1105.
|
| 15 |
KING A J,HIGGS D R. Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia[J]. American society of hematology education program book, 2018, 2018(1): 353-360.
|
| 16 |
张瀚文, 朱宝生. 地中海贫血的治疗进展及预防[J]. 中国妇幼保健, 2016, 31(3): 666-668.
|
| 17 |
YIN A, LI B, LUO M, et al. The prevalence and molecular spectrum of α-and β-globin gene mutations in 14332 families of Guangdong Province, China[J]. Public library of science one, 2014, 9(2): e89855.
|
| 18 |
赖玉玲, 黄丽芳, 马美春, 等. 孕妇孕前地贫基因检测结果分析[J]. 实验与检验医学, 2018, 36(3): 446-447.
|
| 19 |
何淑贞, 蒲育栋, 苏焕厚, 等. NGS与常规筛查对地中海贫血基因筛查的结果比较[J]. 西南国防医药, 2018, 28(5): 404-406.
|
| 20 |
中华医学会医学遗传学分会遗传病临床实践指南撰写组, 商璇, 张新华, 等. α-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 235-242.
|
| 21 |
中华医学会医学遗传学分会遗传病临床实践指南撰写组, 商璇, 吴学东, 等. β-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 243-251.
|
| 22 |
VIPRAKASIT V, EKWATTANAKIT S. Clinical classification, screening and diagnosis for thalassemia[J]. Hematology/oncology clinics of North America, 2018, 32(2): 193-211.
|
| 1 |
HAYWOOD A, DREAU H, TIMBS A, et al. Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing[J]. Annals of hematology, 2010, 89(12): 1215-1221.
|
| 2 |
ZHENG C G, LIU M, DU J, et al. Molecular spectrum of α- and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China[J]. Hemoglobin, 2011, 35(1): 28-39.
|
| 3 |
ADEKILE A D, GU L H, BAYSAL E, et al. Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs[J]. Acta haematologica, 1994, 92(4): 176-181.
|
| 4 |
BRANCALEONI V, DI PIERRO E, MOTTA I, et al. Laboratory diagnosis of thalassemia[J]. International journal of laboratory hematology, 2016, 38 (1): 32-40.
|
| 5 |
WEATHERALL D J. The definition and epidemiology of non-transfusion-dependent thalassemia[J]. Blood reviews, 2012, 26 (1): S3-S6.
|
| 23 |
FARASHI S, HARTEVELD C L. Molecular basis of α-thalassemia[J]. Blood cells, molecules and diseases, 2018, 70: 43-53.
|
| 24 |
沈培奇. 血常规在鉴别缺铁性贫血和地中海贫血中的临床应用[J]. 中国实用医刊, 2016, 43 (8): 116-117.
|
| 25 |
李育敏, 李瑞, 熊丹, 等. 血红蛋白A2筛查β地中海贫血的价值[J]. 临床检验杂志, 2018, 36(6): 429-431.
|
| 26 |
PELOSI E, SIMONSICK E, FORABOSCO A, et al. Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause[J]. Biology of reproduction, 2015, 92(5): 130.
|
| 27 |
姜碧, 钟鸣, 韦思似, 等. 东莞地区育龄人群α地中海贫血分子流行病学调查[J]. 中国优生与遗传杂志, 2015, 23(7): 22-23.
|
| 28 |
RIGAS D A, KOLER R D, OSGOOD E E, et al. Clinical, laboratory, and genetic studies of a family with a previously undescribed hemoglobin[J]. The journal of laboratory and clinical medicine, 1956, 47(1): 51-64.
|
| 29 |
DANJOU F, ANNI F, GALANELLO R. Beta-thalassemia: From genotype to phenotype[J]. Haematologica, 2011, 96(11): 1573-1575.
|
| 30 |
CHAN K, WONG M S, CHAN T K, et al. A thalassaemia array for Southeast Asia[J]. British journal of haematology, 2004, 124(2): 232-239.
|