[Clinical and molecular characteristics of hemoglobin New York in Guangxi populations]

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.