【Objective】 To investigate the genotype distribution of both α- and β-thalassemia in Shenzhen city.【Method】 Couples in the reproductive age were screened by detection of mean corpuscle volume (MCV)

mean corpuscle hemoglobin (MCH) and electrophoresis of hemoglobin. A total of 6276 positive samples were detected and further identified by PCR and Reverse dot blot hybridization (RDB) for the genotype of thalassemia. Samples with positive phenotypes but without common gene mutations were analyzed by DNA sequencing technology. 【Result】 2129 samples with 11 kinds of α-thalassemia gene mutations were detected from 5503 high risk individuals. The three most common mutations were as follows: --SEA/αα (76.84%)

-α3.7/αα (15.12%) and -α4.2/αα (5.26%). 1059 samples with 14 kinds of β-thalassemia gene mutations were detected from 2947 high risk individuals. The six most common mutations were as follows: β41-42(-TCTT)

βIVS-2-654(C→T)

βCD17(A→T)

β-28(A→T)

βCD26(G→A)

βCD71/72(+A)

and its total percentage was 94.71%. A rare β-thalassemia gene mutation was detected from a Guangxi patient for the first time: CD37mutation (G→A)

which was only found in Cantonese and Afghan before. 【Conclusion】 The characteristics of α-

β-thalassemia genotype in Shenzhen were consistent with that in Guangdong province.