ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genotype distribution of hemoglobinopathy in Chinese Jiangsu population.</p><p><b>METHOD</b>A total of 4115 samples were screened for hemaglobinopathy by using MCV combined with erythrocyte fragility tests and HPLC. Thalassemia genotypes were identified by Gap-PCR and Recerse Dot blot. PCR-DNA sequencing and PCR-elecrophoresis were used as supplement of PCR-RBD and for identifying the mutants of globin gene of abnormal hemoglobin.</p><p><b>RESULTS</b>The positive screening rate was 6.10% (251/4115) in Chinese Jiangsu population, 232 cases received thalassemia genotype diagnosis and from them 195 people were positive. In all positive ones, α-thalassemia, β-thalassemia, α-thalassemia combined with β-thalassemia, SEA-HPFH and SEA-HPFH combined with β-thalassemia were found respectively to be 31.28% (61/232), 66.15% (129/232), 1.54% (3/232), 0.43% (1/232) and 0.43% (1/232) of patients. The majority genotype of α-thalassemia was - - (SEA) and IVS-II-654 was the main genotype of β-thalassemia, 11 cases of abnormal hemoglobin were found, including 3 cases of Hb E, 1 Hb Kenitra, 1 Hb Seattle, 1 Hb Saitama, 1 Hb Bushwick, 1 Hb Koln and 1 Hb M-Milwaukee-2.</p><p><b>CONCLUSION</b>The main hemoglobinpathy is thalassemia in Chinese Jiangsu province and the HPLC play an important role in screening hemoglobinpathy. There is reference value of this study for genetic counseling and prenatal diagnosis.</p>