Genotype-Phenotype Correlation of Sickle Cell Disease in the United Arab Emirates

El-Kalla, S.; Baysal, E.

doi:10.3109/08880019809028790

Cited by 13 publications

(4 citation statements)

References 15 publications

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“…Wide variations were reported in the clinical features ranging from moderate to a severe disease, with elevated Hb F levels and associated α-thalassaemia4447–49. Other investigators4850 showed the presence of Saudi-Indian haplotype in 52 per cent of the β S chromosomes that was concurrent with the mild form of the disease.…”

Section: Frequency and Distribution Of Sickle Cell Gene Among Arabsmentioning

confidence: 90%

“…In Arabian Peninsula; Bahrain, UAE, Oman, Kuwait, and Qatar, the disease is generally mild with a mild to moderate anaemia and a few complications, though some patients have a severe disease requiring regular blood transfusions and hospitalization3339404854. In Saudi Arabia, the eastern province shows similar mild pattern, while in the western part of the country, along the Red Sea, and Yemen, the severe pattern predominates1628.…”

Section: Clinical Presentation Of Scdmentioning

confidence: 99%

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Sickle cell disease in Middle East Arab countries

El‐Hazmi¹,

Al-Hazmi²,

Warsy³

2011

Indian Journal of Medical Research

125

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The sickle cell (HbS) gene occurs at a variable frequency in the Middle Eastern Arab countries, with characteristic distribution patterns and representing an overall picture of blood genetic disorders in the region. The origin of the gene has been debated, but studies using β-globin gene haplotypes have ascertained that there were multiple origins for HbS. In some regions the HbS gene is common and exhibits polymorphism, while the reverse is true in others. A common causative factor for the high prevalence and maintenance of HbS and thalassaemia genes is malaria endemicity. The HbS gene also co-exists with other haemoglobin variants and thalassaemia genes and the resulting clinical state is referred to as sickle cell disease (SCD). In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. These are referred to as the Saudi-Indian and the Benin haplotypes, respectively. In a majority of the Middle Eastern Arab countries the HbS is linked to the Saudi-Indian haplotype, while in others it is linked to the Benin haplotype. This review outlines the frequency, distribution, clinical feature, management and prevention as well as gene interactions of the HbS genes with other haemoglobin disorders in the Middle Eastern Arab countries.

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Section: Frequency and Distribution Of Sickle Cell Gene Among Arabsmentioning

confidence: 90%

Section: Clinical Presentation Of Scdmentioning

confidence: 99%

Sickle cell disease in Middle East Arab countries

El‐Hazmi¹,

Al-Hazmi²,

Warsy³

2011

Indian Journal of Medical Research

125

View full text Add to dashboard Cite

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“…Oman is unique in the Arabian Peninsula; the BEN, AI, and Bantu (BAN) haplotypes are encountered frequently because of their geopolitical history and early migrations/interactions . Most patients with SCD in the United Arab Emirates also carry the AI haplotype, although both the BEN and BAN are also encountered with less frequencies …”

Section: Classification Of Tammv Values Reported From Different Countmentioning

confidence: 99%

Transcranial Doppler Ultrasound in Peninsular Arab Patients With Sickle Cell Disease

Adekile

Hassan

Asbeutah

et al. 2018

J of Ultrasound Medicine

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“…It is a major genetic factor in a group of patients with co-inherited S ␤ -thalassemia genotype. Our DNA-based studies demonstrated that the ␤ S gene is indeed the second most common ␤ -globin gene defect in the UAE [2] . In addition HbE is also present particularly in the expatriate community from Bangladesh.…”

Section: Introductionmentioning

confidence: 99%

Molecular Heterogeneity of Beta-Thalassemia in the United Arab Emirates

Baysal

2005

Public Health Genomics

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Theβ-thalassemia alleles in 313 national patients of the United Arab Emirates (UAE) have been characterized using PCR-based DNA-diagnostic techniques including DNA sequencing. A total of 212 patients had homozygous β-thalassemia and the remaining 101 were compound heterozygotes. More than half of the patients were homozygous for the IVS-I-5 (G→C) mutation followed by the sickle cell gene. The latter accounted for 25% of the chromosomes. In terms of frequency, five β-thalassemia mutations; IVS-I-5 (G→C), βS, –25 bp del, Cd 8/9 (+G) and IVS-II-1 (G→A) accounted for 83% of the alleles. In addition, 427 expatriate patients were studied: 256 with homozygous β-thalassemia and 171 were compound heterozygotes. In both the UAE nationals and expatriates, the β-thalassemia mutations and their frequency followed a similar trend. Our results indicate that the frequency of β-globin gene defects including β-thalassemia, sickle cell gene (βS) and abnormal hemoglobins is significantly increased and poses a major public health problem in the UAE. The number of homozygous patients strongly suggests a high degree of consanguinity among the UAE nationals. With 50 different β-thalassemia alleles, UAE is arguably the most heterogeneous population in the world. The diversity of these mutations reflects the historical admixture of genes and their migration from different areas in the region. Our data strongly suggest the need for a comprehensive thalassemia control program and provides a basis for population screening, genetic counseling and prenatal diagnosis.

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Genotype-Phenotype Correlation of Sickle Cell Disease in the United Arab Emirates

Cited by 13 publications

References 15 publications

Sickle cell disease in Middle East Arab countries

Sickle cell disease in Middle East Arab countries

Transcranial Doppler Ultrasound in Peninsular Arab Patients With Sickle Cell Disease

Molecular Heterogeneity of Beta-Thalassemia in the United Arab Emirates

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