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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>2024-03-20</publicationDate>
    
        <volume>17</volume>
        <issue>1</issue>

 
    <startPage>551</startPage>
    <endPage>555</endPage>

	 
      <doi>10.13005/bpj/2881</doi>
        <publisherRecordId>55804</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Genetic Polymorphisms at BcL11A Sites  rs10184550 and  rs7599488  in Sudanese Sickle Cell Patients</title>

    <authors>
	 


      <author>
       <name>Arwa Mustafa</name>

 
		
	<affiliationId>1</affiliationId>
      </author>
    

	 


      <author>
       <name>Fathelrahman Gmeel</name>


		
	<affiliationId>2</affiliationId>

      </author>
    

	 


      <author>
       <name>Abdelgadir Ahmed</name>

		
	<affiliationId>3</affiliationId>
      </author>
    

	 


      <author>
       <name>Mawadah Yousif</name>

		
	<affiliationId>4</affiliationId>
      </author>
    


	 


      <author>
       <name>Sahar G Elbager</name>

		
	<affiliationId>5</affiliationId>
      </author>
    


	 


      <author>
       <name>Ahmed Gaffer</name>

		
	<affiliationId>6</affiliationId>
      </author>
    
    </authors>
    
	    <affiliationsList>
	    
		
		<affiliationName affiliationId="1">Faculty of medical laboratory sciences, Omdurman Islamic University, Sudan</affiliationName>
    

		
		<affiliationName affiliationId="2">Imam Abdulrahman Bin Faisal University, Clinical laboratory science Dammam, Eastern, SA</affiliationName>
    
		
		<affiliationName affiliationId="3">Institute of Endemic Diseases, University of Khartoum, Sudan </affiliationName>
    
		
		<affiliationName affiliationId="4">Faculty of medical laboratory sciences, University of medical sciences and Technology, Khartoum, Sudan </affiliationName>
    
		
		<affiliationName affiliationId="5">Faculty of medical laboratory sciences, Alzaeim alazhari university Khartoum, Sudan</affiliationName>
    
		
	  </affiliationsList>






    <abstract language="eng">Background: BCL11A is associated with HbF in many populations with different variants of polymorphisms, our study aimed to estimate the prevalence Bcl11a polymorphisms and its association with HbF in Sudanese sickle cell patients Materials and methods: This study was done in Jafar Ibn Ouf Children's Hospital from March to August 2019  DNA was extracted using the phenol-chloroform technique, the Bcl11A was processed for (rs10184550), and (rs7599488) Sanger sequencing was used to detect polymorphisms after the purification of DNA. Results: A total of 21 were successfully sequenced, 21 were screened for SNPs (rs10184550) while 7 patients were screened for both BCL11A (rs10184550) and (rs7599488) polymorphisms. Single nucleotide polymorphisms (SNPs) (rs10184550) 16 (76.2%) were males and 5 (23.8%) were females with a mean age of 6.6± 2.9 years (range 2-12 years), The mean HbF level was 16.9±6.6%. For rs10184550 polymorphisms, out of 21 patients, 11 /21 (52%) patients had the “A” allele, and 10/21 (48%) patients had the “G” allele. For, rs7599488, the “T” allele was detected in 1/7 (14%) patients. In comparison, the “C” allele was detected in 6/7 (86%) patients.  Out of 7 patients who screened for BCL11A (rs10184550) and (rs7599488) polymorphisms, 6 patients have rs10184550 “G” allele and rs7599488 “C” allele, while one patient had rs10184550 “A” allele and rs7599488 “C” allele. Furthermore, patients with allele “A” rs10184550 have a significantly higher mean HbF level than patients with the “G” allele (20.1± 6.2 vs 13.43± 5.5, p =0.01 Conclusion: Bcl11 polymorphism is associated with high haemoglobin F in Sudanese sickle cell patients.</abstract>

    <fullTextUrl format="html">https://biomedpharmajournal.org/vol17no1/genetic-polymorphisms-at-bcl11a-sites-rs10184550-and-rs7599488-in-sudanese-sickle-cell-patients/</fullTextUrl>

<keywords language="eng">

      
        <keyword>Anaemia</keyword>
      

      
        <keyword> polymorphism</keyword>
      

      
        <keyword> Sickle cell disease</keyword>
      
</keywords>
  </record>
</records>