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|Title||Molecular, Biochemical and Hematological Investigations of b-Thalassemic Children in Gaza Governorate|
Background: Thalassemias are hereditary anemias mostly common in the Mediterranean, the equatorial, or near equatorial regions of Africa and Asia. They are classified according to which particular globin chain(s) is/are produced in a reduced amount: a, b, db, d, and gd thalassemias. In the Gaza Strip, more than 300 patients have been diagnosed with β-thalassemia major, they are currently being transfused and managed in local hospitals. Aims: To investigate molecular, biochemical and hematological aspects of β-thalassemic children aged 5-12 years in Gaza City. Methodology: Blood samples were collected from 53 β-thalassemic children who are transfused and managed at the pediatric hospitals at Gaza City. Blood withdrawals were performed just before the scheduled blood transfusion. In addition blood samples were also collected from 53 apparently healthy children. Cases and controls were age and sex matched. Part of data was collected by using close-ended questionnaire. Complete blood count and biochemical tests were performed. Screening for possible mutations in HBB gene was performed at the molecular medicine laboratories of the Bernhard Nocht Institute (BNI), Germany, according to Dynamic Allele-Specific Hybridization (DASH) method. This work was performed according to the cross-sectional descriptive study design. An official approvals letters were obtained from Helsinki committee at the Palestinian ministry of health and from the Palestinian Thalassemia Center who approved performing the study on the thalassemic children. The data were tabulated, encoded and statistically analyzed using the IBM SPSS Statistics (version 17, IBM Corporation, Somers, NY). The Chi square test, the independent-samples t-test, and One-Way analysis of variance (ANOVA) were performed aiming at the description, identification of significant relationship, correlations and differences between the study items, variables and parameters. A p-value < 0.05 was considered statistically significant. Results: A significant difference was reported in the parents' consanguinity of the two groups (P=0.001). About 71% of the β-thalassemia major children parents are 1st degree cousins compared to the control group where the percentage is <2%. Severe anemic presentations were seen in the patients where hemoglobin is dropped to about 30% of the level reported in controls, 8.0±1.0 vs 11.4±0.8 g/dL, respectively. Microcytosis without hypochromia is significantly noticeable in patients than controls with MCV and MCH values of 75.9±7.3 fl and 24.1±2.3 pg in patients compared to 79.5±4.4 fl and 24.7 ± 2.2 pg in controls. In addition, a significantly secondary thrombocytosis and leukocytosis were reported in patients. The biochemical characteristics showed significantly deteriorated liver and kidney function tests except for urea in patients as compared to controls. The protein contents: total protein, albumins, globulins are significantly reduced in patients. Moreover, there is iron overload in patients as compared to controls with serum ferritin reached 3231.0±1560.5 ng/l vs 46.8±23.1 ng/l (P<0.0001). The molecular characterization revealed that IVS-I-110 was found nearly in quarter (24/106, relative allele frequency of 0.23) of the patients' chromosomes, followed by IVS-I-1, and CD39 which found in 18 and 17 patients' chromosomes, with relative allele frequency 0.17 and 0.16 respectively. Less frequent mutations IVS-I-6 and CD37 were found with relative allele frequency of 0.08 and 0.06, respectively. Conclusions: There is a molecular heterogeneity of the HBB mutation among thalassemic patients of the Gaza Strip. A deteriorated hematological and biochemical pictures were seen in the patients which requires more appropriate management protocol for those patients specially with the severe mutation.
|Publisher||الجامعة الإسلامية - غزة|
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