Laboratory Medicine ›› 2021, Vol. 36 ›› Issue (6): 642-645.DOI: 10.3969/j.issn.1673-8640.2021.06.014
Previous Articles Next Articles
Received:
2019-11-26
Online:
2021-06-30
Published:
2021-06-30
CLC Number:
Add to citation manager EndNote|Ris|BibTeX
URL: https://www.shjyyx.com/EN/10.3969/j.issn.1673-8640.2021.06.014
β基因型 | α基因型 | 性别 | 例数 | 血液学参数 | |||||
---|---|---|---|---|---|---|---|---|---|
Hb/(g/L) | MCV/fL | MCH/pg | HbA2/% | HbF/% | 异常Hb/% | ||||
中国型Gγ+(Aγδβ)0 | αα/αα | 男 | 9 | 147±10.9 | 69.4±2.1 | 22.7±1.1 | 2.4±0.2 | 14.0±1.8 | |
女 | 7 | 119±13.2 | 68.7±2.5 | 22.6±1.2 | 2.5±0.2 | 17.9±1.8 | |||
中国型Gγ+(Aγδβ)0 | αα/-α3.7 | 女 | 2 | 123±1.4 | 70.9±0.9 | 23.9±1.2 | 2.7±0.0 | 12.8±1.8 | |
中国型Gγ+(Aγδβ)0/βE | αα/αα | 男 | 1 | 120 | 57.0 | 19.0 | 2.5 | 54.1 | 43.4① |
东南亚型-HPFH | αα/αα | 男 | 8 | 147±7.8 | 75.1±6.3 | 25.2±2.1 | 4.2±0.8 | 22.3±5.8 | |
女 | 5 | 121±6.7 | 74.7±3.2 | 25.9±0.9 | 3.4±0.4 | 26.1±3.3 | |||
东南亚型-HPFH | αα/αIVS-Ⅱ-55α | 女 | 1 | 123 | 81.9 | 26.5 | 3.0 | 29.0 | |
β基因型 | α基因型 | 性别 | 例数 | 血液学参数 | |||||
Hb/(g/L) | MCV/fL | MCH/pg | HbA2/% | HbF/% | 异常Hb/% | ||||
东南亚型-HPFH | αα/--SEA | 男 | 1 | 138 | 68.1 | 21.8 | 5.0 | 10.3 | |
女 | 3 | 119±3.8 | 71.9±2.5 | 23.5±1.4 | 3.5±0.8 | 19.6±7.1 | |||
台湾型 | αα/αα | 女 | 3 | 106±7.3 | 64.7±4.1 | 20.2±2.1 | 6.4±1.1 | 8.0±2.4 |
β基因型 | α基因型 | 性别 | 例数 | 血液学参数 | |||||
---|---|---|---|---|---|---|---|---|---|
Hb/(g/L) | MCV/fL | MCH/pg | HbA2/% | HbF/% | 异常Hb/% | ||||
中国型Gγ+(Aγδβ)0 | αα/αα | 男 | 9 | 147±10.9 | 69.4±2.1 | 22.7±1.1 | 2.4±0.2 | 14.0±1.8 | |
女 | 7 | 119±13.2 | 68.7±2.5 | 22.6±1.2 | 2.5±0.2 | 17.9±1.8 | |||
中国型Gγ+(Aγδβ)0 | αα/-α3.7 | 女 | 2 | 123±1.4 | 70.9±0.9 | 23.9±1.2 | 2.7±0.0 | 12.8±1.8 | |
中国型Gγ+(Aγδβ)0/βE | αα/αα | 男 | 1 | 120 | 57.0 | 19.0 | 2.5 | 54.1 | 43.4① |
东南亚型-HPFH | αα/αα | 男 | 8 | 147±7.8 | 75.1±6.3 | 25.2±2.1 | 4.2±0.8 | 22.3±5.8 | |
女 | 5 | 121±6.7 | 74.7±3.2 | 25.9±0.9 | 3.4±0.4 | 26.1±3.3 | |||
东南亚型-HPFH | αα/αIVS-Ⅱ-55α | 女 | 1 | 123 | 81.9 | 26.5 | 3.0 | 29.0 | |
β基因型 | α基因型 | 性别 | 例数 | 血液学参数 | |||||
Hb/(g/L) | MCV/fL | MCH/pg | HbA2/% | HbF/% | 异常Hb/% | ||||
东南亚型-HPFH | αα/--SEA | 男 | 1 | 138 | 68.1 | 21.8 | 5.0 | 10.3 | |
女 | 3 | 119±3.8 | 71.9±2.5 | 23.5±1.4 | 3.5±0.8 | 19.6±7.1 | |||
台湾型 | αα/αα | 女 | 3 | 106±7.3 | 64.7±4.1 | 20.2±2.1 | 6.4±1.1 | 8.0±2.4 |
基因型 | MCV/fL | MCH/pg | HbA2/% | HbF/% |
---|---|---|---|---|
中国型Gγ+(Aγδβ)0 | 69.1±2.2 | 22.7±1.1 | 2.5±0.2 | 15.4±2.6 |
东南亚型-HPFH | 75.0±5.3* | 25.5±1.8* | 3.9±0.8* | 23.8±5.2* |
台湾型 | 64.7±4.1# | 20.2±2.1# | 6.4±1.1*# | 8.0±2.4*# |
P值 | 0.000 | 0.000 | 0.000 | 0.000 |
基因型 | MCV/fL | MCH/pg | HbA2/% | HbF/% |
---|---|---|---|---|
中国型Gγ+(Aγδβ)0 | 69.1±2.2 | 22.7±1.1 | 2.5±0.2 | 15.4±2.6 |
东南亚型-HPFH | 75.0±5.3* | 25.5±1.8* | 3.9±0.8* | 23.8±5.2* |
台湾型 | 64.7±4.1# | 20.2±2.1# | 6.4±1.1*# | 8.0±2.4*# |
P值 | 0.000 | 0.000 | 0.000 | 0.000 |
基因型 | MCV/fL | MCH/pg | HbA2/% | HbF/% |
---|---|---|---|---|
中国型Gγ+(Aγδβ)0 | 69.1±2.2 | 22.7±1.1 | 2.5±0.2 | 15.4±2.6 |
中国型Gγ+(Aγδβ)0复合-α3.7杂合缺失 | 70.9±0.9 | 23.9±1.2 | 2.7±0.0 | 12.8±1.8 |
东南亚型-HPFH复合--SEA杂合缺失 | 70.9±2.8 | 23.1±1.4* | 3.9±1.0 | 17.3±7.5 |
东南亚型-HPFH | 75.0±5.3 | 25.5±1.8 | 3.9±0.8 | 23.8±5.2 |
基因型 | MCV/fL | MCH/pg | HbA2/% | HbF/% |
---|---|---|---|---|
中国型Gγ+(Aγδβ)0 | 69.1±2.2 | 22.7±1.1 | 2.5±0.2 | 15.4±2.6 |
中国型Gγ+(Aγδβ)0复合-α3.7杂合缺失 | 70.9±0.9 | 23.9±1.2 | 2.7±0.0 | 12.8±1.8 |
东南亚型-HPFH复合--SEA杂合缺失 | 70.9±2.8 | 23.1±1.4* | 3.9±1.0 | 17.3±7.5 |
东南亚型-HPFH | 75.0±5.3 | 25.5±1.8 | 3.9±0.8 | 23.8±5.2 |
[1] | 徐湘民, 张新华, 陈荔丽. 地中海贫血预防控制操作指南[M]. 北京: 人民军医出版社, 2011. |
[2] | 邓惠萍, 朱春江. 缺失型β地中海贫血的研究进展[J]. 中外医学研究, 2019,17(5):184-186. |
[3] |
SHANG X, RAO Z, LOU J, et al. Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene:report of two Chinese families[J]. Int J Lab Hematol, 2011,33(1):79-84.
DOI URL |
[4] | 杜丽, 王继成, 秦丹卿, 等. 中国型Gγ+(Aγδβ)0地中海贫血及东南亚型HPFH的临床表型研究及遗传咨询[J]. 实用妇产科杂志, 2018,34(4):305-308. |
[5] | 李育敏, 张水兰, 阚丽娟, 等. 罕见地中海贫血基因变异的分子特征与表型[J]. 检验医学, 2019,34(7):613-616. |
[6] | 李友琼, 黄慧嫔, 阳文辉, 等. 广西地区血红蛋白New York的血液学和分子特征[J]. 中华血液学杂志, 2013,34(8):696-699. |
[7] | 丁燕玲. 地中海贫血罕见突变的研究进展[J]. 中国优生与遗传杂志, 2016,24(2):4-5. |
[8] | 曾小红. 遗传性持续性胎儿血红蛋白增高症(HPFH)的分子机制[J]. 中国产前诊断杂志(电子版), 2012,4(2):26-32. |
[9] |
JOLY P, LACAN P, GARCIA C, et al. Identification and molecular characterization of four new large deletions in the beta-globin gene cluster[J]. Blood Cells Mol Dis, 2009,43(1):53-57.
DOI URL |
[10] |
HUANG C H, CHANG Y Y, CHEN C H, et al. Molecular characterization of a beta-globin gene deletion of 1 357 bp in a Taiwanese beta-thalassemia carrier[J]. Hemoglobin, 2008,32(5):498-504.
DOI URL |
[11] |
CAI W J, LI J, XIE X M, et al. Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F[J]. Int J Lab Hematol, 2015,37(6):752-757.
DOI URL |
[12] | 徐湘民. 见于中国人的HPFH 和δβ-地中海贫血的分子基础[J]. 中华医学遗传学杂志, 1998,15(5):315-317. |
[13] |
CARROCINI G C, ZAMARO P J, BONINI-DOMINGOS C R. What influences Hb fetal production in adulthood?[J]. Rev Bras Hematol Hemoter, 2011,33(3):231-236.
DOI URL |
[14] |
MANCA L, MASALA B. Disorders of the synjournal of human fetal hemoglobin[J]. IUBMB Life, 2008,60(2):94-111.
DOI URL |
[1] | FAN Lieying. Research status and application prospects of biomarkers for membranous nephropathy [J]. Laboratory Medicine, 2023, 38(12): 1111-1114. |
[2] | SUN Lincheng, LI Jianfeng, CHENG Weili, JI Panyun. Roles of anti-PLA2R IgG4 antibody and PLA2R IgG4/IgG ratio in primary membranous nephropathy [J]. Laboratory Medicine, 2023, 38(12): 1115-1120. |
[3] | LIU Qingyang, YUAN Jianming, XIA Jinjun, JIANG Fengying, WANG Qiubo, WANG Xiaoming. CXCL9 as a potential diagnostic marker of rheumatoid arthritis based on GEO database and experimental verification [J]. Laboratory Medicine, 2023, 38(12): 1121-1129. |
[4] | YANG Xiao, LI Enling, WU Lixia, DAI Yingxin, WANG Zhiqing, HUANG Hao, ZHENG Bing. Influence of cytoplasmic antinuclear antibody on indirect immunofluorescence assay based antineutrophil cytoplasmic antibody determination [J]. Laboratory Medicine, 2023, 38(12): 1135-1140. |
[5] | XIANG Jin, LIU Aiping, HU Yao, WU Zhiyuan, CAO Guojun, GUAN Ming. ANA profiles in COVID-19 patients and influence of serum heat-inactivation on ANA determination [J]. Laboratory Medicine, 2023, 38(12): 1141-1146. |
[6] | CHENG Yu, XU Zhen, LU Liu, DING Menglei, YU Shanshan, ZONG Ming, FAN Lieying. Expression and risk factors of anti-ACE-2 antibody in serum of patients with COVID-19 [J]. Laboratory Medicine, 2023, 38(12): 1147-1152. |
[7] | . [J]. Laboratory Medicine, 2023, 38(12): 1153-1156. |
[8] | . [J]. Laboratory Medicine, 2023, 38(12): 1157-1159. |
[9] | WANG Hongling, LIU Mengna, BAI Ping, LIAO Huanjin. Risk factors of relapse following allogeneic hematopoietic stem cell transplantation in patients with acute myeloid leukemia [J]. Laboratory Medicine, 2023, 38(12): 1160-1166. |
[10] | YANG Xilan, WANG Jinyu, LIU Shuyu, ZHAN Yiyang, LIU Jing, JIA Jian. Correlation between hyperlipidemia and endothelial microparticles in elderly patients from Gulou Community in Nanjing [J]. Laboratory Medicine, 2023, 38(12): 1167-1172. |
[11] | DAI Fangfang, LU Xinxin, YU Yanhua, CHEN Ming, SUN Guizhen. Analysis of Mycobacterium infection in HIV/AIDS patients [J]. Laboratory Medicine, 2023, 38(12): 1173-1176. |
[12] | GU Yu, LIANG Xiaoyan, MA Shenghui, TONG Na, CHENG Mingyan, YAN Zejun. Expression and near-term prognostic predictive value of plasma biomarkers in chronic kidney disease patients with thromboembolism [J]. Laboratory Medicine, 2023, 38(12): 1177-1182. |
[13] | . [J]. Laboratory Medicine, 2023, 38(12): 1183-1185. |
[14] | . [J]. Laboratory Medicine, 2023, 38(12): 1186-1190. |
[15] | . [J]. Laboratory Medicine, 2023, 38(12): 1191-1194. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||