AI Article Synopsis
- The study aimed to assess the prevalence of alpha thalassemia and identify gene mutations in people undergoing premarital screening in Jazan, Saudi Arabia.
- Approximately 4.43% of the 3,970 blood samples analyzed showed signs of alpha thalassemia, with genetic tests confirming mutations in 95% of suspected cases.
- The findings highlight a significant presence of alpha thalassemia in the region, underscoring the importance of genetic screening in premarital assessments.
Article Abstract
Objective: To evaluate the frequency of alpha thalassemia and detect mutations in the alpha genes in individuals undergoing premarital screening.
Methods: The cross-sectional study was conducted at King Fahad Central Hospital, Jazan, Saudi Arabia, from January 2018 to May 2019, and comprised blood samples of individuals visiting the premarital screening clinic. The samples were analyzed for complete blood counts and haemoglobin electrophoresis. Molecular analysis of samples suspected for alpha thalassemia was done using alpha-globin StripAssay kit. Data was anlaysed using SPSS 20.
Results: Of the 3,970 samples analysed, 1,859(46.83%) were from males and 2,111(53.17%) from females. The overall frequency of suspected alpha thalassemia was 4.43% based upon haematological parameters including complete blood count and haemoglobin electrophoresis. Overall, 80 suspected samples were selected for genetic analyses, and, of them, 76 (95%) were positive for deletional and non-deletional mutations of alpha-globin genes, while 4 (5%) were negative for any of the 21 mutations tested.
Conclusions: Alpha thalassemia was found to be highly prevalent in the study area.
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| http://dx.doi.org/10.47391/JPMA.864 | DOI Listing |
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