Diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia / 实用医学杂志

ABSTRACT

Objective To study the diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia. Methods Between January 2012 and December 2013, 14032 core blood samples which were from different 21 Women and Children Hospitals in Guangdong were performed for the neonatal screening with hemoglobin electrophoresis. The positive samples of hemoglobin electrophoresis were recalled for genetic testing. Results Out of 1445 (11.07%) positive samples of hemoglobin electrophoresis , 1075 (54.08%) cases were suspected for α-thalassemia, 478 (3.41%) cases were suspected for β-thalassemia, 127 (0.91%) cases were suspected for abnormal hemoglobin. With the genetic testing, 967 cases were diagnosed as α-thalassemia, 404 cases were diagnosed asβ-thalassemia. The coincidence rate ofα-thalassemia andβ-thalassemia were 89.95%and 82.96%, respectively. Besides, 124 cases were diagnosed as abnormal hemoglobin, including 38 cases of Hb E, 28 cases of Hb Q, 21 cases of Hb D, 19 cases of Hb New York, 13 cases of Hb J, and 5 cases of Hb J. Conclusion Hemoglobin electrophoresis was definitely helpful in the neonatal cord blood screening for thalassemia and abnormal hemoglobin.