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Frequency and genotyping of alpha thalassemia in individuals undergoing premarital screening
Muhammad Saboor1, Abdullah Ahmed Mobarki1, Hassan Abdu Hamali1
1Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia.
Insights
Alpha thalassemia, a genetic blood disorder, is highly prevalent in Saudi Arabia, affecting approximately 4.43% of individuals screened before marriage. Genetic analysis confirmed mutations in 95% of suspected cases, highlighting the importance of premarital screening for alpha thalassemia.
Area of Science:
- Medical Genetics
- Hematology
- Public Health
Background:
- Alpha thalassemia is a common inherited blood disorder.
- Premarital screening is crucial for identifying carriers of genetic disorders.
- Understanding the prevalence of alpha thalassemia is vital for genetic counseling and public health strategies.
Purpose of the Study:
- To determine the frequency of alpha thalassemia among individuals undergoing premarital screening.
- To identify specific mutations in the alpha-globin genes associated with alpha thalassemia.
Main Methods:
- A cross-sectional study involving 3,970 individuals at King Fahad Central Hospital, Saudi Arabia.
- Hematological analysis including complete blood counts and hemoglobin electrophoresis.
- Molecular analysis using the alpha-globin StripAssay kit for suspected cases.
Main Results:
- The overall frequency of suspected alpha thalassemia was 4.43%.
- Out of 80 samples selected for genetic analysis, 76 (95%) showed deletional and non-deletional alpha-globin gene mutations.
- A high prevalence of alpha thalassemia was observed in the study population.
Conclusions:
- Alpha thalassemia is highly prevalent in the studied population in Saudi Arabia.
- Genetic mutations confirm the high incidence of alpha thalassemia.
- Premarital screening effectively identifies individuals at risk.
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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