AI Article Synopsis
- Alpha-thalassemia is common in China, with four main gene mutations observed in patients, primarily affecting children.
- Research aimed to explore how these genetic variations impact endocrine issues in children, finding that hypogonadism was the most frequent complication.
- The study revealed that specific genotypes, especially (-α4.2/-SEA), were linked to a higher risk of several endocrine disorders, including diabetes and hypothyroidism.
Article 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. (αα/-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).
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462763 | PMC |
| http://dx.doi.org/10.1038/s41598-017-03029-9 | DOI Listing |
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