Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening

Authors

  • Muhammad Saboor Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia
  • Abdullah Ahmed Mobarki Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia
  • Hassan Abdu Hamali Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia
  • Amr Jamal Halawani Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia
  • Saleh Mohammed Abdullah Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia
  • Ayman Mohsen Mashi Department of Hematopathplogy, King Fahad Central Hospital, Jazan, Saudi Arabia
  • Yahya Hassan Hobani Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia

DOI:

https://doi.org/10.47391/JPMA.864

Abstract

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, Sauid 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 hemoglobin 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.

Conclusion: Alpha thalassemia was found to be highly prevalent in the study area.

Key Words: Alpha thalassemia, –?3.7, –?IVS1, ? polyA1, premarital screening.

Published

2020-10-05

How to Cite

Saboor, M., Abdullah Ahmed Mobarki, Hassan Abdu Hamali, Amr Jamal Halawani, Saleh Mohammed Abdullah, Ayman Mohsen Mashi, & Yahya Hassan Hobani. (2020). Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening. Journal of the Pakistan Medical Association, 1-11. https://doi.org/10.47391/JPMA.864

Issue

Section

Lab. Research