Analysis of genetic mutation types in 121 cases of rare thalassemia
Objective To investigate the distribution of rare thalassemia gene mutation types in Nanping.Methods A total of 4 962 patients who underwent thalassemia screening at Prenatal Diagnosis Center,Nanping Maternal and Child Health Hospital from January 2017 to December 2022 were selected as the study objects,including 2 435 men and 2 527 women who were 19-48 years old.The types of rare thalassemia gene mutations were analyzed by peripheral blood screening,genetic detection,and Sanger sequencing.Results A total of 121 rare thalassemia gene mutations were detected,mainly including α-thalassemia(50.41％,61/121)and β-thalassemia(37.19％,45/121).In addition,there were 3 cases of y-thalassemia,10 cases of δ-thalassemia,and 2 cases of αβ-thalassemia.A total of 57 gene mutation types were found,mainly IVS-Ⅱ-55(T＞G)in α2(25 cases,20.66％),followed by CD113(T＞A)in β(Hb New York),IVS-Ⅱ-81(C＞T)in β,and CD56(G＞A)in β(Hb J-Bangkok),accounting for 4.96％(6/121),4.96％(6/121),and 4.13％(5/121),respectively.Multiple thalassemia gene mutation types were identified,including 9 α gene mutations[-21G＞A in α1,+3(T＞C)in α1,CD16(A＞C)in α1,CD106(C＞G)in α2,IVS-Ⅰ-9(C＞T)in α1,IVS-Ⅱ-17(G＞A)in)α2,IVS-Ⅱ-35(G＞A)in α1,IVS-Ⅱ-88(G＞A)in α2,and-35T＞C in α1 combined with IVS-Ⅱ-55(T＞G)in α2],7 β gene mutations[-96(G＞T)in β,IVS-Ⅱ-827(A＞T)in β,CD10(C＞T)in β combined with CD81(C＞A)in β,CD17(A＞T)in β combined with CD56(C＞T)in β,IVS-Ⅱ-81(C＞T)in βcombined with CD56(G＞A)in β,IVS-Ⅱ-81 C＞T in β combined with CD113(T＞A)in β,and IVS-Ⅱ-806(G＞C)in β combined with-84(A＞G)in β],3 γ gene mutations[-365(G＞C)in Aγ combined with-352(A＞G)in Aγ and-158(C＞T)in)Gγ,-158(C＞T)in Aγ combined with-158(C＞T)in Gγ,and-196(C＞T)in Aγ],1 δ gene mutation[CD38(C＞A)in delta combined with CD39(C＞A)in 8],and 2 αβ complex gene mutations[IVS-Ⅱ-65(G＞A)in α1 combined with CD22(A＞C)in β and IVS-Ⅱ-55(T＞G)in α2 combined with IVS-Ⅱ-81(C＞T)in β].Conclusions There is a certain proportion of rare types of thalassemia gene mutations in the population in Nanping area.The accurate detection of rare type thalassemia gene mutations plays an important role in the clinical diagnosis of thalassemia population in this area,and provides valuable references for prenatal diagnosis,genetic counseling,and eugenics.
ThalassemiaGene mutationsGenetic testingSanger sequencingGenetic counseling and eugenic
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