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.
题目: 中国武汉地区儿童地中海贫血基因类型及临床特征分析.
目的: 分析武汉地区儿童地中海贫血的基因型及临床特征.
方法: 回顾性选取2017年12月至2019年12月于本院儿科就诊并确诊为地中海贫血的159例患儿，分析本地区儿童地贫基因型、检出率及其临床特征.
结果: 共送检422份样品，其中159例通过基因检测确诊为地中海贫血，总检出率为37.68%。其中α-地中海贫血检出率为17.30%，β-地中海贫血检出率为20.14%，αβ-复合地中海贫血检出率为0.24%。α-地中海贫血中αα/-SEA最常见，共检出50例，构成比为68.49%，其次为αα/-α3.7 14例（19.18%），αα/-α4.2 5例 (6.85%)，αα/ QS 1例 (1.37%)；检出9种β-地中海贫血基因突变类型，最常见的3种突变类型依次为IVSⅡ-654(C→T) 34例（40.00%）、CD41-42(-TTCT) 17例（20.00%）、CD17(A→T) 14例（16.47%），检测出2例新发突变：HBB：c.92-2A＞T、HBB：c.-23A＞G。送检样本年龄在0-3岁者134例（84.28 %），4-6岁者19例（11.95%），＞7岁者6例（3.77%）。轻度贫血147例（92.45%），中度贫血11例（6.92%），重度贫血1例（0.63%）。MCV＜65 fL组94例（59.12%），65-80 fL组51例（32.08%），≥80 fL组14例（8.81%）。β-地中海贫血组MCV小于α-地贫组，差异有统计学意义（P＜0.05）.
结论: 武汉地区儿童地中海贫血基因型具有多样性，与其他地区存在差异，且以轻型为主，多数于3岁以内确诊；β-地中海贫血患儿红细胞体积较α-地中海贫血更小.