Li You-qiong, Huang Hui-pin, Yang Wen-hui, Chen Zhi-zhong, Zhao Lin, Huang Hua-yi, Qin Gui-fang
Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
Zhonghua Xue Ye Xue Za Zhi. 2013 Aug;34(8):696-9. doi: 10.3760/cma.j.issn.0253-2727.2013.08.011.
To analyze the clinical and molecular characteristics of hemoglobin New York in populations from Guangxi and provide reference data for screening thalassemia.
A total of 30 691 samples were screened by capillary electrophoresis, and then suspicious samples of Hb New York were identified by DNA sequencing and analysis of blood cell count. Gap-PCR and reverse dot blot hybridization method were used for the detection of common mutations of α and β thalassemia in Chinese.
The incidence of Hb New York was 0.12% in Guangxi. The hematological phenotype index (MCV, MCH, Hb New York, Hb A2) of 32 Hb New York heterozygous cases were (91.00±5.19)fl, (29.42±2.04)pg, (44.10±3.12)% and (2.80±0.29)% , respectively. The hematological phenotype index of 4 Hb New York composited SEA heterozygous patients were (68.20±5.26) fl, (21.78±2.15) pg, (36.60±2.00)% and (2.90±0.14)% , of 2 Hb New York composited WS heterozygous patients were (83.90±2.69) fl, (27.70±1.70) pg, (39.70±1.70)% and (3.50±0.21)%. There were statistical differences between three groups (P<0.05). HGB, MCV and MCH of Hb New York heterozygous and Hb New York composited WS heterozygous were normal, and patients with Hb New York composited SEA heterozygous showed mild anemia, decreased MCV and MCH.
Most of Hb New York were heterozygous and no homozygotes in Guangxi. There were different hematological characteristics in different Hb New York heterozygous patients. Hb New York heterozygous had normal hematological phenotype, ant combined with other types of thalassemia could exhibit symptoms such as anemia.
分析广西人群中血红蛋白纽约型的临床及分子特征,为地中海贫血筛查提供参考数据。
采用毛细管电泳法对30691份样本进行筛查,然后通过DNA测序和血细胞计数分析鉴定血红蛋白纽约型可疑样本。采用缺口聚合酶链反应(Gap-PCR)和反向点杂交法检测中国人常见的α和β地中海贫血突变。
广西地区血红蛋白纽约型的发生率为0.12%。32例血红蛋白纽约型杂合子病例的血液学表型指标(平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、血红蛋白纽约型、血红蛋白A2)分别为(91.00±5.19)fl、(29.42±2.04)pg、(44.10±3.12)%和(2.80±0.29)%。4例血红蛋白纽约型复合东南亚型(SEA)杂合子患者的血液学表型指标为(68.20±5.26)fl、(21.78±2.15)pg、(36.60±2.00)%和(2.90±0.14)%,2例血红蛋白纽约型复合WS型杂合子患者的血液学表型指标为(83.90±2.69)fl、(27.70±1.70)pg、(39.70±1.70)%和(3.50±0.21)%。三组间差异有统计学意义(P<0.05)。血红蛋白纽约型杂合子和血红蛋白纽约型复合WS型杂合子的血红蛋白(HGB)、MCV和MCH正常,而血红蛋白纽约型复合SEA型杂合子患者表现为轻度贫血,MCV和MCH降低。
广西地区血红蛋白纽约型大多为杂合子,无纯合子。不同血红蛋白纽约型杂合子患者有不同的血液学特征。血红蛋白纽约型杂合子血液学表型正常,与其他类型地中海贫血合并时可出现贫血等症状。