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Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 1
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Original Article

Spectrum of α-Thalassemia Mutations in Transfusion-Dependent β-Thalassemia Patients from the Eastern Province of Saudi Arabia

Mohammed Shakil AkhtarDepartment of Biochemistry, University of Dammam, Dammam, Saudi ArabiaCorrespondence[email protected] [email protected]
,
Fuad QawDepartment of Biochemistry, University of Dammam, Dammam, Saudi Arabia
,
J. Francis BorgioPrince Mohammed Centre for Research & Consultation Studies, University of Dammam, Dammam, Saudi Arabia
,
Waleed AlbualiAl-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa & King Fahd Hospital, Al-Ahsa, Saudi Arabia
,
Ahmed SulimanAl-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa & King Fahd Hospital, Al-Ahsa, Saudi Arabia
,
Zaki NasserullahAl-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa & King Fahd Hospital, Al-Ahsa, Saudi Arabia
,
Sana Al-JarrashDammam Maternity and Child Hospital, Dammam, Saudi Arabia
&
Amein Al-AliPrince Mohammed Centre for Research & Consultation Studies, University of Dammam, Dammam, Saudi Arabia;Al-Omran Scientific Chair for Hematological Diseases in Al-Ahsa, King Faisal University, Al-Ahsa & King Fahd Hospital, Al-Ahsa, Saudi Arabia
 show all
Pages 65-73 | Received 24 Jun 2012, Accepted 20 Sep 2012, Published online: 08 Jan 2013

Citations (28)

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M Hesham, Adel S Ali, Shimaa Mahmoud Abogabela, Amal Fawzy, Noura Mostafa Mohamed & Wesam A Mokhtar. (2023) Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children. Expert Review of Hematology 16:2, pages 141-146.
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Lubna Ibrahim Al Asoom, Marwah Mansour Al Makhaita, Nazish Rafique, Dina Tariq Al Afandi, Waad Mohammed Al Otaibi, Hind Saleh Alsuwat, Mousa A Alaithan, Sayed AbdulAzeez & J Francis Borgio. (2020) Effects of –3.7α Deletion and Sickle-Cell Trait on Ventilatory and Hemodynamic Responses to Maximum Exercise in Young Saudi Females. Journal of Blood Medicine 11, pages 371-378.
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Fatemeh Forouzesh Pour, Keyvan Karimi, Zhila Ghaderi, Ameneh Tavakoli Koudehi & Hossein Najmabadi. (2020) Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran. Hemoglobin 44:6, pages 423-426.
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Arwa Z. Al-Riyami, Shahina Daar, Salam Al Kindi, Ali Al Madhani, Yasser Wali, Mohammed Al Rawahi & Shoaib Al Zadjali. (2020) α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region. Hemoglobin 44:1, pages 20-26.
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Nabeel J. Al Moamen, Ahmed Thabet, Fawzia Mahdi, Hema Newton & Ebtihal Salman. (2018) Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αT-Saudiα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses. Hemoglobin 42:3, pages 166-170.
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Amani M. Al-Amodi, Neda Z. Ghanem, Sumayh A. Aldakeel, Lubna Ibrahim Al Asoom, Nazish Rafique Ahmed, Noor B. Almandil, Zaki A. Naserullah, Sana Al-Jarrash, Mohammed Shakil Akhtar, Sayed AbdulAzeez, Amein K. Al-Ali & J. Francis Borgio. (2018) Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT). Current Medical Research and Opinion 34:5, pages 945-951.
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Suha M. Hassan, Cornelis L. Harteveld, Egbert Bakker & Piero C. Giordano. (2014) Molecular Spectrum of α-Globin Gene Defects in the Omani Population. Hemoglobin 38:6, pages 422-426.
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Articles from other publishers (21)

Hayaa M. Alhuthali, Eman F. Ataya, Alaa Alsalmi, Triq E Elmissbah, Khalaf F Alsharif, Hind A. Alzahrani, Ahad Amer Alsaiari, Mamdouh Allahyani, Amal F. Gharib, Husam Qanash, Heba M. Elmasry & Doha Elsayed Hassanein. (2023) Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence. Thrombosis Journal 21:1.
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Ashutosh Lal & Elliott Vichinsky. (2023) The Clinical Phenotypes of Alpha Thalassemia. Hematology/Oncology Clinics of North America 37:2, pages 327-339.
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Nouran Y. Salah, Heba G. A. Ali, Noha Bassiouny, Lamya Salem, Sara I. Taha, Mariam K. Youssef, Layla Annaka & Noha M. Barakat. (2021) BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity. Journal of Pediatric Genetics 12:01, pages 016-022.
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Hossein Jalali, Mohammad Reza Mahdavi, Mahan Mahdavi & Adeleh Abbasi. (2022) Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene. Thalassemia Reports 12:3, pages 51-54.
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Nipith Charoenngam, Thanitsara Rittiphairoj & Ben Ponvilawan. (2021) Fracture prevalence in thalassemia: a systematic review and meta-analysis. Archives of Osteoporosis 16:1.
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Mohammad Hamid, Bijan keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati & Marziye Mohammadi‐Anaei. (2021) Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual. eJHaem 2:3, pages 366-374.
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Rawand P. Shamoon. (2020) Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan. Molecular Biology Reports 47:8, pages 6067-6071.
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Sayed AbdulAzeez, Noor B. Almandil, Zaki A. Naserullah, Sana Al-Jarrash, Ahmed M. Al-Suliman, Huda I. ElFakharay & J. Francis Borgio. (2019) Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients. Molecular Biology Reports 47:1, pages 603-606.
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Seyed Mohammad Bagher Hashemi‐Soteh, Hossein Karami, Seyed Saeid Mousavi, Touraj Farazmandfar & Ahmad Tamadoni. (2019) Alpha‐globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. Journal of Clinical Laboratory Analysis 34:1.
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Talal Qadah & Mohammad Sarwar Jamal. (2019) Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β -Globin Gene Suggests Possible Cause of β -Thalassemia . BioMed Research International 2019, pages 1-8.
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Sharon A. Singh, Susmita Sarangi, Abena Appiah-Kubi, Peihong Hsu, W. Byron Smith, Patrick G. Gallagher, Bertil Glader & David H. K. Chui. (2018) Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation. Pediatric Blood & Cancer 65:9, pages e27220.
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J. Borgio, Sayed Abdulazeez, Noor Almandil, Zaki Naserullah, Sana Al‑Jarrash, Ahmed Al‑Suliman, Huda Elfakharay, Fuad Qaw, Fatimah Alabdrabalnabi, Mohammed Alkhalifah, Mohammed Shakil Akhtar, Hatem Qutub & Amein Al‑Ali. (2017) The ‑α3.7 deletion in α‑globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population. Molecular Medicine Reports.
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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. (2017) Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β -Thalassemia Patients . BioMed Research International 2017, pages 1-7.
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Lantip Rujito, Muhammad Basalamah, Wahyu Siswandari, Joko Setyono, Gondo Wulandari, Sri Mulatsih, Abdul Salam M. Sofro, Ahmad Hamim Sadewa & Sutaryo Sutaryo. (2016) Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: A study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia. Hematology/Oncology and Stem Cell Therapy 9:2, pages 55-63.
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J. F. Borgio, S. AbdulAzeez, Z. A. Naserullah, S. Al‐Jarrash, R. A. Al‐Ali, M. S. Al‐Madan, F. Al‐Muhanna, A. M. Al‐Suliman, A. Al‐Nafie, M. H. Steinberg & A. K. Al‐Ali. (2016) Mutations in the β‐globin gene from a Saudi population: an update. International Journal of Laboratory Hematology 38:2.
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Sayed AbdulAzeez, Awatif Al-Nafie, Abdullah Al-Shehri, J. Borgio, Ekaterina Baranova, Mohammed Al-Madan, Rudaynah Al-Ali, Fahad Al-Muhanna, Abdullah Al-Ali, Mohammed Al-Mansori, Mohammed Ibrahim, Folkert Asselbergs, Brendan Keating, Bobby Koeleman & Amein Al-Ali. (2016) Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population. International Journal of Molecular Sciences 17:3, pages 395.
Crossref
Sayed AbdulAzeez & J. Francis Borgio. (2016) In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene. PLOS ONE 11:1, pages e0147702.
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Muhammad Abu-Elmagd, Mourad Assidi, Hans-Juergen Schulten, Ashraf Dallol, Peter Natesan Pushparaj, Farid Ahmed, Stephen W Scherer & Mohammed Al-Qahtani. (2015) Individualized medicine enabled by genomics in Saudi Arabia. BMC Medical Genomics 8:S1.
Crossref
Awatif N. Al-Nafie, J. Francis Borgio, Sayed AbdulAzeez, Ahmed M. Al-Suliman, Fuad S. Qaw, Zaki A. Naserullah, Sana Al-Jarrash, Mohammed S. Al-Madan, Rudaynah A. Al-Ali, Mohammed A. AlKhalifah, Fahad Al-Muhanna, Martin H. Steinberg & Amein K. Al-Ali. (2015) Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients. Blood Cells, Molecules, and Diseases 55:1, pages 27-29.
Crossref
J. Francis Borgio, S. AbdulAzeez, Awatif N. Al-Nafie, Zaki A. Naserullah, Sana Al-Jarrash, Mohammed S. Al-Madan, Fahad Al-Muhanna, Martin H. Steinberg & Amein K. Al-Ali. (2014) A novel HBA2 gene conversion in cis or trans: “α12 allele” in a Saudi population. Blood Cells, Molecules, and Diseases 53:4, pages 199-203.
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Mohamad H Qari, Yasser Wali, Muneer H Albagshi, Mohammad Alshahrani, Azzah Alzahrani, Ibrahim A Alhijji, Abdulkareem Almomen, Abdullah Aljefri, Hussain H Al Saeed, Shaker Abdullah, Ahmad Al Rustumani, Khoutir Mahour & Shaker A Mousa. (2013) Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area. Orphanet Journal of Rare Diseases 8:1.
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