Abstract
Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (–SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However report on endocrinal complications in children with alpha thalassemia in China are still absent. The present study aimed to investigate the impact of genotype on endocrinal complications in Chinese children. Association analysis between genotype and endocrinal compliaction development was conducted on 200 patients with 200 healthy controls. Hypogonadism was found to be the most prominent endocrinal complications (84.0%) leading to the growth retardation, hypogonadism, diabetes mellitus, hypothyroidism and hypoparathyroidism whose incidence were significantly higher in pateints. (αCSα/–SEA) was the main genotype of Alpha thalassemia identified in the patients (37.5%), and patients with the (-α4.2/–SEA) genotype had a higher prevalence of hypogonadism, diabetes mellitus and hypoparathyroidism (P = 0.001, P = 0.001, P < 0.001, respectively).
Highlights
Alpha-thalassemia (α-thalassemia) is caused by deletions or point mutations of the alpha-globin gene due to the complexity and diversity of genetic defects
Hypogonadism was the most prominent endocrinal complications in patients (84.0%), followed by growth retardation (68.5%) and hypoparathyroidism (14.5%)
There was no significant difference in Red blood cells (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and MCHC among the four groups (P > 0.05)
Summary
Alpha-thalassemia (α-thalassemia) is caused by deletions or point mutations of the alpha-globin gene due to the complexity and diversity of genetic defects. Patients with severe α-thalassemia require frequent red blood cell transfusion for survival. Many complications will occur in patients on regular blood transfusion with iron chelating therapy. Complications of α-thalassemia mainly result from chronic hemolysis and tissue hypoxia, causing iron overload and multiple organ dysfunction[1]. Guangxi Province is located in the southwest of China where the incidence of thalassemia is 24.51%5. In the past decades, data on diagnose and treatment of α-thalassemia or related complications in children are still absent. In this study typical physical exam findings growth retardation, hypogonadism, thalassemic bone deformities, diabetes mellitus[6,7,8,9] were included to identify the association between four genotype (SEA, -α3.7/–SEA, -α4.2/–SEA, αCSα/–SEA) and endocrine complications in children with α-thalassemia
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