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Thalassemia Reports
Volume 5
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10.4081/thal.2015.4739
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Article

Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease

by
Suha Mustafa Hassan
1,2,*,
Muhanna Al Muslahi
2,
Muna Al Riyami
2,
Abeer Al Balushi
2,
Egbert Bakker
3,
Cornelis L. Harteveld
3 and
Piero C. Giordano
3
1
Molecular Genetic Laboratory, Genetics Centre, Muscat, Oman
2
Royal Hospital, Muscat, Oman
3
The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2015, 5(1), 4739; https://doi.org/10.4081/thal.2015.4739
Submission received: 1 October 2014 / Revised: 11 February 2015 / Accepted: 5 March 2015 / Published: 18 May 2015

Abstract

Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease.
Keywords: sickle cell disease; genotype; haplotype; sub-haplotype; Oman sickle cell disease; genotype; haplotype; sub-haplotype; Oman

Share and Cite

MDPI and ACS Style

Hassan, S.M.; Al Muslahi, M.; Al Riyami, M.; Al Balushi, A.; Bakker, E.; Harteveld, C.L.; Giordano, P.C. Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease. Thalass. Rep. 2015, 5, 4739. https://doi.org/10.4081/thal.2015.4739

AMA Style

Hassan SM, Al Muslahi M, Al Riyami M, Al Balushi A, Bakker E, Harteveld CL, Giordano PC. Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease. Thalassemia Reports. 2015; 5(1):4739. https://doi.org/10.4081/thal.2015.4739

Chicago/Turabian Style

Hassan, Suha Mustafa, Muhanna Al Muslahi, Muna Al Riyami, Abeer Al Balushi, Egbert Bakker, Cornelis L. Harteveld, and Piero C. Giordano. 2015. "Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease" Thalassemia Reports 5, no. 1: 4739. https://doi.org/10.4081/thal.2015.4739

APA Style

Hassan, S. M., Al Muslahi, M., Al Riyami, M., Al Balushi, A., Bakker, E., Harteveld, C. L., & Giordano, P. C. (2015). Haplotypes, Sub-Haplotypes and Geographical Distribution in Omani Patients with Sickle Cell Disease. Thalassemia Reports, 5(1), 4739. https://doi.org/10.4081/thal.2015.4739

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