ABSTRACT
OBJECTIVE@#To investigate the genotypes and clinical characteristics of thalassemia on children in Wuhan region.@*METHODS@#A total of 159 patients diagnosed as thalassemia in Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology from December 2017 to December 2019. The patients were retrospectively analyzed for their types of mutations, detection rates and clinical characteristics.@*RESULTS@#Among the 422 samples, 159 samples were finally diagnosed as thalassemia through genetic testing, the total detection rate was 37.68%. The detection rate of α, β and αβ-thalassemia was 17.30%, 20.14% and 0.24% respectively. Among α-thalassemia, αα/-SEA was the most common one, with a composition ratio of 68.49%(50/73), followed by αα/-α3.7 (19.18%), αα/-α4.2 (6.85%) and αα/ QS (1.37%). 9 types of β-thalassemia gene mutations were detected, and the most common three mutations were IVSII-654(C→T), with a composition ratio of 40.00%, CD41-42(-TTCT) (20.00%) and CD17(A→T)(16.47%). Two novel mutations of β-thalassemia, HBB: c.92-2A＞T and HBB:c.-23A＞G were detected. Among all the positive patients, 134 (84.28%) were 0-3 years old, 19 (11.95%) were 4-6 years old, and 6 (3.77%) were 7 years of age or older. There were 147 patients with mild anemia (92.45%), 11 patients with moderate anemia (6.92%), and 1 patients with severe anemia (0.63%). The MCV of 94(59.12%) patients was lower than 65 fL, and that of 51(32.08%) patients was between 65 fL and 80 fL, while 14(8.81%) patients was higher than 80 fL. MCV in β-thalassemia group was lower than that in α-thalassemia group, and the difference showed statistically significant (P<0.05).@*CONCLUSION@#The genotypes of thalassemia in children in Wuhan area are diverse, and most of them are mild thalassemia, and diagnosed under 3 years old. Children with β-thalassemia have smaller red blood cell volumes than those with α-thalassemia.
Subject(s)
Child , Child, Preschool , Humans , Infant , Infant, Newborn , Genetic Testing , Genotype , Retrospective Studies , alpha-Thalassemia/genetics , beta-Thalassemia/geneticsABSTRACT
Objective To investigate Notch1 protein expression of leukemic cells in children with pediatric Bcell acute lymphoblastic leukemia(B-ALL) and its effect on prognosis.Methods The expression of Notch1 protein of leukemic cells in bone marrow smears was detected by immunohistochemistry(SABC) in primarily diagnosed childhood ALL,including 63 cases of B-ALL and 14 cases of T-ALL,a group of 34 children with no malignancy served as controls.Reverse transcription-ploymerase chain reaction was used to assay Notch1 mRNA expression in ALL patients.Results The incidence of Notch1 expression was 31.7％ in B-ALL patients,71.4％ in T-ALL patients,and 8.8％ in control group,respectively.Notch1 protein was aberrantly expressed in both B-ALL and T-ALL compared with the controls(P ＜ 0.05,P ＜ 0.001).Multivariate analysis revealed that the expression of Notch1 protein in B-ALL was not associated with patients' age,gender,WBC count at diagnosis(all P ＞ 0.05),it had no influence on the early treatment response.Nevertheless,the Kaplan-Meier curve of event-free survival showed that,in the patients without Notch1 protein expression,the long-term event-free survival rate was as high as 92.7 ％,in contrast,in the children with Notch 1 expression,the event-free survival was only 54.5 ％ (P =0.0054).Conclusions The expression of Notch 1 protein in pediatric B-ALL may predict a poor prognosis,and interfering with Notch1 signaling could be employed as a potential therapeutic target for those patients with Notch1 expression.