Impact of genotype on endocrinal complications in β-thalassemia patients.
In β-thalassemia, certain mutations cause a complete absence of β-globin chain synthesis, termed β0-thalassemia, while others may allow certain β-globin production and are termed β+- or β++-thalassemia. The homozygous state results in severe anemia, which requires regular blood transfusion. By contrast, frequent blood transfusion can in turn lead to iron overload, which may result in several endocrinal complications. The present study aimed to investigate the impact of genotype on the development of endocrine complications in β-thalassemia patients. A cross-sectional study was conducted on 100 thalassemia patients >10 years. A data abstraction form was designed to capture the appropriate information from the individual medical records, including full clinical, laboratory, transfusion and chelation data. The genotype of the patients was identified by the DNA sequencing technique. Growth retardation and hypogonadism were the most prominent endocrinal complications (70 and 67%, respectively) followed by hypothyroidism, diabetes mellitus and hypoparathyrodism (8, 8 and 7%, respectively). The most common mutations identified were IVS-1-110, IVS-1-1 and IVS-1-6 (63, 47 and 41%, respectively). Patients with the β0β0genotype had a significantly higher prevalence of growth retardation, hypogonadism, hypothyroidism and hypoparathyrodism compared to those with the β0β+and β+β+genotypes (P<0.001, P<0.001, P<0.001 and P=0.037, respectively). Patients with the homozygous IVS-11-745 mutation had a significantly higher prevalence of diabetes (P=0.001). The underlying genetic defect in thalassemia patients is a contributing factor for the development of endocrinal complications, as patients with the more severe defects have a greater rate of iron loading through higher red cell consumption.
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Ahmed
A
Al-Akhras
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Mohamed
M
Badr
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Usama
U
El-Safy
Department of Pediatrics and Adolescents, Laboratory of Hemoglobinopathy, University of Ulm, D-89069 Ulm, Germany.
Elisabeth
E
Kohne
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Tamer
T
Hassan
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Hadeel
H
Abdelrahman
Department of Clinical Pathology, Zagazig University, Zagazig 44111, Egypt.
Mohamed
M
Mourad
Department of Pediatrics and Adolescents, Laboratory of Hemoglobinopathy, University of Ulm, D-89069 Ulm, Germany.
Joaquin
J
Brintrup
Department of Pediatrics, Zagazig University, Zagazig 44111, Egypt.
Marwa
M
Zakaria
endocrinal; genotype; thalassemia