Literature DB >> 26822801

Mutations in the β-globin gene from a Saudi population: an update.

J F Borgio1, S AbdulAzeez2, Z A Naserullah3, S Al-Jarrash3, R A Al-Ali4, M S Al-Madan4, F Al-Muhanna4, A M Al-Suliman5, A Al-Nafie4, M H Steinberg6, A K Al-Ali2,5.   

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Year:  2016        PMID： 26822801     DOI： 10.1111/ijlh.12463

Source DB:  PubMed          Journal:  Int J Lab Hematol        ISSN： 1751-5521            Impact factor:   2.877


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  8 in total

1.  Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients.

Authors:  Sayed AbdulAzeez; Noor B Almandil; Zaki A Naserullah; Sana Al-Jarrash; Ahmed M Al-Suliman; Huda I ElFakharay; J Francis Borgio
Journal:  Mol Biol Rep       Date:  2019-11-08       Impact factor: 2.316

2.  Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic.

Authors:  Jesu Francis Borgio; Mohammed S Al-Madan; Sayed AbdulAzeez
Journal:  Am J Transl Res       Date:  2016-10-15       Impact factor: 4.060

3.  Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.

Authors:  Cyril Cyrus; Chittibabu Vatte; J Francis Borgio; Abdullah Al-Rubaish; Shahanas Chathoth; Zaki A Nasserullah; Sana Al Jarrash; Ahmed Sulaiman; Hatem Qutub; Hassan Alsaleem; Alhusain J Alzahrani; Martin H Steinberg; Amein K Al Ali
Journal:  Biomed Res Int       Date:  2017-02-09       Impact factor: 3.411

4.  Protocol for "Genetic composition of sickle cell disease in the Arab population: A systematic review".

Authors:  Fateen Ata; Zohaib Yousaf; Sundus Sardar; Saad Javed; Phool Iqbal; Ibraheem Khamees; Lujain Salahaldeen Malkawi; Mohamed A Yassin
Journal:  Health Sci Rep       Date:  2022-05-03

5.  Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report.

Authors:  Waseem Chauhan; Rafat Fatma; Zeeba Zaka-Ur-Rab; Mohammad Afzal
Journal:  J Med Case Rep       Date:  2022-10-09

6.  KLF1 gene and borderline hemoglobin A2 in Saudi population.

Authors:  J Francis Borgio; Sayed AbdulAzeez; Ahmed M Al-Muslami; Zaki A Naserullah; Sana Al-Jarrash; Ahmed M Al-Suliman; Mohammed S Al-Madan; Amein K Al-Ali
Journal:  Arch Med Sci       Date:  2017-12-19       Impact factor: 3.318

Review 7.  A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Authors:  Mousa A Alaithan; Sayed AbdulAzeez; J Francis Borgio
Journal:  Saudi Med J       Date:  2018-04       Impact factor: 1.484

8.  Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.

Authors:  Sumayh A Aldakeel; Neda Z Ghanem; Amani M Al-Amodi; Ahoud Khalid Osman; Lubna Ibrahim Al Asoom; Nazish Rafique Ahmed; Noor B Almandil; Mohammed Shakil Akhtar; Sayed Abdul Azeez; J Francis Borgio
Journal:  Arch Med Sci       Date:  2019-05-05       Impact factor: 3.318
  8 in total

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