The ‑α3.7 deletion in α‑globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population

Borgio,J.   Francis; Abdulazeez,Sayed; Almandil,Noor  B.; Naserullah,Zaki  A.; Al‑Jarrash,Sana; Al‑Suliman,Ahmed  M.; Elfakharay,Huda   Ismail; Qaw,Fuad  S.; Alabdrabalnabi,Fatimah  I.; Alkhalifah,Mohammed  A.; Shakil Akhtar,Mohammed; Qutub,Hatem; Al‑Ali,Amein  K.

doi:10.3892/mmr.2017.8033

The ‑α3.7 deletion in α‑globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population

Authors:
- J. Francis Borgio
- Sayed Abdulazeez
- Noor B. Almandil
- Zaki A. Naserullah
- Sana Al‑Jarrash
- Ahmed M. Al‑Suliman
- Huda Ismail Elfakharay
- Fuad S. Qaw
- Fatimah I. Alabdrabalnabi
- Mohammed A. Alkhalifah
- Mohammed Shakil Akhtar
- Hatem Qutub
- Amein K. Al‑Ali
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Affiliations: Department of Genetic Research, Institute for Research and Medical Consultation, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia, Department of Clinical Pharmacy Research, Institute for Research and Medical Consultation, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia, Dammam Maternity and Child Hospital, Dammam 32253, Saudi Arabia, Al‑Omran Scientific Chair for Hematological Diseases Prevalent in The Al‑Ahssa Area, King Faisal University, Al‑Ahssa 31982, Saudi Arabia, Almana General Hospital, Al‑Khobar 34226, Saudi Arabia, Department of Biochemistry, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia, King Fahd Hospital of The University, Al‑Khobar 34445, Saudi Arabia, Qatif Central Hospital, Qatif 32654, Saudi Arabia
Published online on: November 13, 2017 https://doi.org/10.3892/mmr.2017.8033
Pages: 1879-1884

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Abstract

The regions of Al‑Qatif and Al‑Ahssa in the Eastern Province of Saudi Arabia are known for their high prevalence of hemoglobinopathies, including β‑thalassemia and sickle cell anemia. Previously, the α‑gene deletion has been demonstrated as highly prevalent among populations residing in these two regions. The present study was conducted in order to investigate the implications of the α‑globin gene deletion on fetal hemoglobin (HbF) and hemoglobin α2 (HbA2) concentrations in patients with transfusion‑dependent β‑thalassemia. A total of 166 Saudi patients with transfusion‑dependent β‑thalassemia and 337 healthy Saudi patients were included in the study. The ‑α3.7, ‑α4.2, -‑FIL, -‑SEA, -‑MED and -‑(20.5) gene deletions were identified using multiplex α‑globin deletion polymerase chain reaction. The present study revealed that the ‑α3.7 gene deletion is the most prevalent (43.5%) in the Saudi populations that were analyzed and is characterized by the deletion of 3,804 base pairs. Numerous genotypes, namely ‑3.7α2/α1α2, ‑3.7α2/α1α12, ‑3.7α2/‑3.7α2, ‑3.7α2HphI/α1α2HphI, ‑3.7α2/α1‑4.2, ‑3.7α2/α1polyA‑1α2, ‑3.7α12/α1α12, ‑‑FIL/‑3.7α2 and ‑3.7α2/‑3.7α2Hb Villiers le Bel were also identified in the investigated population. Furthermore, a gradual increase in the concentration of HbF and HbA2 in patients with β‑thalassemia and the number of α‑gene deletions was demonstrated; whereas in healthy patients the level of HbA2 was demonstrated to decrease as the number of α‑gene deletions increased. Therefore, it can be concluded that the high HbF concentration in the present study is predominantly associated with other mutations associated with β‑thalassemia rather than α‑globin deletions. Furthermore, the results of the present study also revealed novel α‑gene deletion genotypes prevalent in the population studied, namely α1α2/α1α2HphI, α1α2HphI/α1α2HphI, α1α2/α1α2Hb Handsworth, ‑3.7α2HphI/α1α2HphI, ‑3.7α2/‑3.7α2Hb Villiers le Bel and ‑-MED/α1α2HphI.

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