To investigate the genotype distribution of thalassemia intermedia, major and compound thalassemia in Peking Union Medical College Hospital from 2012 to 2015.

Retrospectively 1 084 suspected thalassemia cases were analyzed in recent four years. Three common deletions of α globin chain were detected by GAP-PCR. Three common point mutations of α globin chain and seventeen common mutations of β globin chain were identified by PCR reverse dot blot hybridization. Hemoglobin electrophoresis was carried out by Capillary Electrophoresis System. RBC associated parameters and morphology were analyzed by hematology analyzer and blood smear.

702 cases were confirmed to be thalassemia, and the positive rate was 64.76% (702/1084). 19 types of gene defects were detected. There were 4 types of gene defects in 23 case with α-thalassemia intermeida, including -α^3.7/--^SEA, -α^4.2/--^SEA, α^CSα/--^SEA and α^QSα/--^SEA, -α^3.7/--^SEA to be the most common genotype (18 cases) .3 cases with β-thalassemia intermeida were confirmed and the genotypes were β^CD17(A→T)/β^-29(A→G), β^-28(A→G)/β^-28(A→G) and β^{IVS-Ⅱ-654(C→T)}/βCD17(A→T), respectively. There were also 1 β^{CD41-42(-TTCT)}/β^CD17(A→T) thalassemia major case. The genotypes of 2 HbE/β-thalassemia cases were βCD41-42(-TTCT)/β^E and βCD17(A→T)/β^E. 5 αβ-thalassemia including 2 β^{CD41-42(-TTCT)}/β^A compounded with αα/-α^3.7, 1β^{IVS-Ⅱ-654(C→T)}/β^A compounded with --^SEA/α^CSα, 1βCD17(A→T)/β^A compounded with -α^4.2/αα and 1βCD41-42(-TTCT)/β^A compounded with α^CSα/αα. Rare and untypical haematological results were found, such as normal level HbA₂ and undetectable HbH, in compound heterozygosity with --^SEA/α^CSα and β^{IVS-Ⅱ-654(C→T)}/β^A.

The genotypes of thalassemia intermedia, major and compound thalassemia in Peking Union Medical College were highly variable.(Chin J Lab Med, 2016, 39: 491-495)

Thalassemia; alpha-globin; Beta-globin; Genotype; Hemoglobinometry