广西地区血红蛋白New York的血液学和分子特征

Clinical and molecular characteristics of hemoglobin New York in Guangxi populations

目的了解血红蛋白New York（Hb New York）的血液学和分子特征，为地中海贫血筛查提供参考数据。方法采用毛细管电泳检测30691份样本，对筛查出Hb New York的携带样本分别进行DNA测序和血细胞分析，采用跨越缺口-PCR、反向斑点杂交方法检测中国人常见的α和β珠蛋白基因突变类型。结果广西地区人群Hb New York的发生率为0．12％。32例单纯Hb New York杂合子红细胞平均体积（MCV）、红细胞平均血红蛋白含量（MCH）、HbNewYork和HbA：的含量为（91．00±5．19）n、（29．42±2．04）pg、（44．10±3．12）％、（2．80±0．29）％，4例HbNewY0rk合并SEA缺失杂合子为（68．20±5．26）fl、（21．78±2．15）Pg、（36．60±2．00）％、（2．90±0．14）％，2例Hb New York合并WS杂合子为（83．90±2．69）n、（27．70±1．70）pg、（39．70±1．70）％、（3．50±0．21）％，差异均有统计学意义（P值均〈0．05）。其中单纯Hb New York杂合子和Hb New York合并WS杂合子的HGB、MCV、MCH水平未见异常，而Hb New York合并SEA缺失杂合子表现轻度贫血或MCV、MCH降低。结论广西地区人群Hb New York以杂合子多见，未见纯合子。不同Hb New York杂合子血液学特征不同，单纯Hb New York杂合子血液学表型正常，合并其他类型地中海贫血时Hb New York可表现贫血。

Objective To analyze the clinical and molecular characteristics of hemoglobin New York in populations from Guangxi and provide reference data for screening thalassemia. Methods 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 ct and 13 thalassemia in Chinese. Results 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. Conclusion 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. [