Genetic variation of thalassemia in children in Ningbo City and its correlation with erythrocyte parameters / 中华地方病学杂志

ABSTRACT

Objective:To explore the type and composition of thalassemia gene variation in children in Ningbo City, and to analyze its correlation with erythrocyte parameters.Methods:From January 2019 to December 2020, 785 children who underwent thalassemia gene testing in Ningbo Women and Children's Hospital were selected as the retrospective research subjects to analyze the type and composition of thalassemia gene variation in local children. A total of 238 thalassemia gene mutation carriers and 100 healthy children (control group) who underwent physical examination during the same period were selected for routine blood test to analyze the correlation between thalassemia gene mutation types and serological indexes.Results:Among the 785 children who underwent thalassemia gene testing, 571 were confirmed as carriers of thalassemia gene mutation, with a detection rate of 72.7%, including 228 cases of α-thalassemia, 337 cases of β-thalassemia, and 6 cases of αβ-complex type thalassemia. It covered 17 variant types and 25 gene combinations. There were significant differences in red blood cell count (RBC), hematokrit (HCT), hemoglobin concentration (Hb), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV) and red blood cell distribution width (RDW) between the control, α-thalassemia and β-thalassemia groups ( H/ F = 125.03, 86.24, 141.06, 192.99, 121.46, 198.63, 178.06, P < 0.001). And there were statistically significant differences in HCT, Hb, MCH, MCV and RDW among the four common genotypes (-- SEA/αα, β IVS-Ⅱ-654/β N, β CD41-42/β N and β CD17/β N) in this test ( F = 5.03, 3.34, 6.24, 10.33, 6.83, P < 0.05). Conclusion:The genotypes of children with thalassemia in Ningbo City are diverse, and the erythrocyte parameters are different among different genotypes.