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<records>

  <record>
    <language>eng</language>
          <publisher>Oriental Scientific Publishing Company</publisher>
        <journalTitle>Biomedical and Pharmacology Journal</journalTitle>
          <issn>0974-6242</issn>
            <publicationDate>2026-03-20</publicationDate>
    
        <volume>19</volume>
        <issue>1</issue>

 
    <startPage>428</startPage>
    <endPage>434</endPage>

	 
      <doi>10.13005/bpj/3362</doi>
        <publisherRecordId>70906</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Molecular patterns of Beta-Thalassemia in Taif Province- Saudi Arabia: determination of prevalent genotypes and regions with high incidence</title>

    <authors>
	 


      <author>
       <name>Tariq Elfatih. Elmissbah</name>

 
		
	<affiliationId>1</affiliationId>
      </author>
    

	 


      <author>
       <name>Hayaa Moaid. Huthali</name>


		
	<affiliationId>1</affiliationId>

      </author>
    

	 


      <author>
       <name>Mamdouh Allahyani</name>

		
	<affiliationId>1</affiliationId>
      </author>
    

	 


      <author>
       <name>Amal Shuwman Alosaimi</name>

		
	<affiliationId>1</affiliationId>
      </author>
    


	 


      <author>
       <name>Heba Mohammed. Elmasry</name>

		
	<affiliationId>2</affiliationId>
      </author>
    


	
    </authors>
    
	    <affiliationsList>
	    
		
		<affiliationName affiliationId="1">Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif University, Taif, Saudi Arabia</affiliationName>
    

		
		<affiliationName affiliationId="2">Department of Clinical Pathology, South Egypt Cancer Institute, Assiut, Egypt</affiliationName>
    
		
		
		
		
	  </affiliationsList>






    <abstract language="eng">Thalassemia includes a collection of genetic blood disorders marked by reduced or absent production of the -globin chain caused by mutations in essential regions of the -globin gene found on the chromosome. The severity of the disease can range from asymptomatic cases to anemia requiring transfusions, depending on the type of mutation. It follows an inheritance pattern that is autosomal recessive.

This is a descriptive analytical study aimed to examine the varieties and prevalence of B-Thalassemia mutations among various ethnic groups in the Taif province.  Ninety samples were gathered and sent for analysis of β-globin gene mutations via the reverse dot blot hybridization method. Saudi patients not diagnosed with  β-thal were excluded in this study.

The findings indicated that codon 6 [A&gt;T] HbS (c.20A&gt;T, heterozygous) was present at a frequency of 44.4%, codon 8/9 [+G] (c.27_28insG) heterozygous at 4%, codon 6 [A&gt;T] HbS (c.20A&gt;T) homozygous, IVS 1.5 [G&gt;C] (c.92+5G&gt;C), 101 [C&gt;T] (c.-151C&gt;T, homozygous, 5%), codon 39 [C&gt;T] (c.118C&gt;T, heterozygous), IVS 1.1 [G&gt;A] (c.92+1G&gt;A) at 1% heterozygous, IVS 1.110 [G&gt;A] (c.93-21G&gt;A, 1% heterozygous), IVS 1.5 [G&gt;C] (c.92+5G&gt;C) 1% heterozygous, IVS 1.6 [T&gt;C] (c.92+6T&gt;C) 1% heterozygous, IVS 2.1 [G&gt;A] (c.315+1G&gt;A) 1% heterozygous, IVS 2.745 [C&gt;G] (c.316-106C&gt;G), IVS 2.848 [C&gt;A] (c.316-3C&gt;A). IVS 2.848 [C&gt;A] (c.316-3C&gt;A).

Conclusion.This research shows that the heterozygous mutation codon 6 [A&gt;T] HbS (c.20A&gt;T) is the leading cause of B thalassemia in Taif city.</abstract>

    <fullTextUrl format="html">https://biomedpharmajournal.org/vol19no1/molecular-patterns-of-beta-thalassemia-in-taif-province-saudi-arabia-determination-of-prevalent-genotypes-and-regions-with-high-incidence/</fullTextUrl>

<keywords language="eng">

      
        <keyword>B-Thalassemia</keyword>
      

      
        <keyword> Consanguineous marriages</keyword>
      

      
        <keyword> Genotypes</keyword>
      

      
        <keyword> Saudi population</keyword>
      

      
        <keyword> Taif city</keyword>
      
</keywords>
  </record>
</records>