Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening
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 com...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Pakistan Medical Association
2020-10-01
|
| Series: | Journal of the Pakistan Medical Association |
| Online Access: | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1521 |
| _version_ | 1797820512646201344 |
|---|---|
| author | Muhammad Saboor Abdullah Ahmed Mobarki Hassan Abdu Hamali Amr Jamal Halawani Saleh Mohammed Abdullah Ayman Mohsen Mashi Yahya Hassan Hobani |
| author_facet | Muhammad Saboor Abdullah Ahmed Mobarki Hassan Abdu Hamali Amr Jamal Halawani Saleh Mohammed Abdullah Ayman Mohsen Mashi Yahya Hassan Hobani |
| author_sort | Muhammad Saboor |
| collection | DOAJ |
| description | 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.
|
| first_indexed | 2024-03-13T09:40:27Z |
| format | Article |
| id | doaj.art-645fe8ff0d6d49e293e8c4d824753896 |
| institution | Directory Open Access Journal |
| issn | 0030-9982 |
| language | English |
| last_indexed | 2024-03-13T09:40:27Z |
| publishDate | 2020-10-01 |
| publisher | Pakistan Medical Association |
| record_format | Article |
| series | Journal of the Pakistan Medical Association |
| spelling | doaj.art-645fe8ff0d6d49e293e8c4d8247538962023-05-25T04:25:37ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822020-10-0110.47391/JPMA.864Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screeningMuhammad Saboor0Abdullah Ahmed Mobarki 1Hassan Abdu Hamali2Amr Jamal Halawani 3Saleh Mohammed Abdullah 4Ayman Mohsen Mashi 5Yahya Hassan Hobani6Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaDepartment of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaDepartment of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaDepartment of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaDepartment of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaDepartment of Hematopathplogy, King Fahad Central Hospital, Jazan, Saudi ArabiaDepartment of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi ArabiaAbstract 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. https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1521 |
| spellingShingle | Muhammad Saboor Abdullah Ahmed Mobarki Hassan Abdu Hamali Amr Jamal Halawani Saleh Mohammed Abdullah Ayman Mohsen Mashi Yahya Hassan Hobani Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening Journal of the Pakistan Medical Association |
| title | Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| title_full | Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| title_fullStr | Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| title_full_unstemmed | Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| title_short | Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| title_sort | frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening |
| url | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1521 |
| work_keys_str_mv | AT muhammadsaboor frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT abdullahahmedmobarki frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT hassanabduhamali frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT amrjamalhalawani frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT salehmohammedabdullah frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT aymanmohsenmashi frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening AT yahyahassanhobani frequencyandgenotypingofalphathalassemiainindividualsundergoingpremaritalscreening |