Analysis of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas / 中华地方病学杂志

ABSTRACT

Objective:To analyze the incidence and characteristics of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas.Methods:Dry blood spot samples of newborns (born from January 2020 to June 2021) sent to Hubei Neonatal Disease Screening Center were tested by hemoglobin capillary electrophoresis, and the newborns with abnormal hemoglobin bands were further tested for gene and statistically analyzed.Results:A total of 51 348 samples of neonatal dry blood spots were collected. According to electrophoresis analysis, abnormal bands were detected in 127 cases, and 78 cases were recalled for genetic test, the recall rate was 61.42%. Among them, 42 cases were diagnosed as abnormal hemoglobinopathy. Calculated according to the recall ratio, the detection rate of abnormal hemoglobinopathy was 0.13%. There were 11 cases of α-globin chain structural variation, most often were 3 cases of Hb Queens (27.27%) and 2 cases of Hb I (18.18%); moreover, there were 31 cases of β-globin chain structural variation, among which 11 cases of Hb J-Bangkok (35.48%), 8 cases of Hb E (25.81%) and 7 cases of Hb New York (22.58%) appeared more frequently. Among the 13 kinds of abnormal hemoglobins found, Hb I was located in N13/N(Bart) zone; Hb J-Bangkok and Hb J-Meerut were located in N12 zone; Hb New York and Hb Shenyang were located in N11 zone; Hb G-Coushatta, Hb G-Taipei and Hb Port Phillip were located in N5/N(D/G/K) zone; Hb Queens, Hb G-Honolulu and Hb Ottawa were located in N4/N(S) zone; Hb Montgomery and Hb E were located in N3/N (E) zone.Conclusion:The incidence of neonatal abnormal hemoglobinopathy in Wuhan and its surrounding areas is low, and main type of abnormal hemoglobin is β-globin chain structural variation.