Genotype-phenotype characteristics of β thalassemia children in the Gaza Strip, Palestine

Yassin, MM and Sirdah, MM and Al Haddad, RM and Lubbad, AH and El Yazji, Mansour S. (2013) Genotype-phenotype characteristics of β thalassemia children in the Gaza Strip, Palestine. Journal of Genetic Disorders & Genetic Reports, 2 (2). pp. 1-6. ISSN 2327-5790

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Background β-Thalassemia is a public health problem in the Gaza Strip, Palestine. The present work is aimed to determine any association between β-Thalassemia mutations and the phenotypes of Gazian patients. Methods Blood samples were collected just before scheduled blood transfusion from 53 β-thalassemic children who are already characterized for the causative mutation. Blood samples were collected also from 53 apparently healthy children of the same sex and age range. Complete blood count and biochemical tests were performed. Results Sixty-six percent (66.0%) of the β-thalassemic patients are receiving blood transfusions every 2-3 weeks. Splenectomized thalassemic patients represented only 7.5% of the cases. Significantly severe anemic presentations, remarkable thrombocytosis and leukocytosis were seen in the thalassemic patients. The biochemical characteristics showed significantly deteriorated liver and kidney function tests, except for urea. Homozygosity was reported in more than half of the patients. Some significantly different hematological and biochemical characteristics were reported among different genotypes. Conclusion It was concluded that, in addition to the previously reported molecular heterogeneity of β-thalassemic mutations in the Gaza Strip, deteriorated hematological and biochemical profiles were seen in the β-thalassemic patients, with possible correlation to genotype; this requires a more appropriate management protocol for those patients, especially with the severe mutation.

Item Type: Article
Uncontrolled Keywords: β-thalassemia; Children; Molecular; Biochemical and hematological parameters; Gaza strip
Subjects: Q Science > Q Science (General)
Divisions: Faculty of Medicine, Health and Life Sciences > School of Biological Sciences
Depositing User: Mr. Ahmed A, Ouda
Date Deposited: 02 Sep 2018 10:15
Last Modified: 02 Sep 2018 10:15

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