<i>β</i><sup>S</sup>globin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

Abou-Elew, Heba Hassan; Youssry, Ilham; Hefny, Shireen; Hashem, Rania H.; Fouad, Nevine; Zayed, Rania A.

doi:10.1080/10245332.2017.1403736

Cited by 12 publications

(11 citation statements)

References 36 publications

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“…The second prevalent detected haplotype was Benin haplotype, with a frequency of 26.9%. This haplotype is the most predominant in many parts of the world, particularly African continent and Middle East countries [13,17]. The frequency of the Benin haplotype in the current study is consistent with earlier reports from Sudan and Brazil [27,30].…”

Section: Discussionsupporting

confidence: 92%

“…The isolated DNA was stored at -20 °C until use in subsequent analyses. β-globin haplotyping assay was carried out for six specific loci of the β globin gene cluster by using polymerase chain reaction (PCR) followed by restriction fragment length polymorphisms (RFLP) as described previously [17]. The six loci were amplified using specific sets of primers to generate PCR fragments of 760 bp, 650 bp, 323 bp, 635 bp, 914 bp and 328 bp (Supplementary Table 1).…”

Section: Hemoglobinmentioning

confidence: 99%

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Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

Adam¹,

Maki²,

Ahmed³

et al. 2021

PJMHS

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Aim: To identify β globin gene haplotypes and their frequencies in patients with SCD in North Darfur state, western Sudan Methods: This is a cross-sectional prospective community-based study that was carried out between December 2017 and August 2018. The study took place in the North Darfur state which is located in western Sudan. The study included 666 individuals (369 females and 297 males). Participants were screened for haemoglobinopathies using haemoglobin electrophoresis, while β globin haplotypes analysis for patients with SCD was carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Among the 666 participants, 579 (86.94%) had normal hemoglobin (AA), while 70 (10.51%), 13 (1.95%), and 4 (0.6%) had AS, SS, and AD respectively. Cameroon haplotype was found in 42.3% of the study group. Benin was 26.9%, Bantu was 23.1% and Senegal was 7.7%. Conclusion: The Cameron haplotype was found to be most prominent in Sudanese patients, thereby confirming the findings of previous studies in the country. Keywords: sickle cell disease; anemia; β-globin; haplotype; North Darfur; Sudan

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Section: Discussionsupporting

confidence: 92%

Section: Hemoglobinmentioning

confidence: 99%

Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

Adam¹,

Maki²,

Ahmed³

et al. 2021

PJMHS

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“…Several authors have highlighted the interest of studying hemoglobin haplotypes for individuals with hemoglobin disorders as a modulation of the clinical pro le of the disease can occur (7)(8)(9)(10)(11)(12)(13)(14). In Côte d'Ivoire, not data was available on these haplotypes.…”

Section: Discussionmentioning

confidence: 99%

“…These haplotypes have different geographic origins (5,6). The presence of some haplotypes can reduce the SCD symptoms, whereas other ones amplify clinical manifestations (7)(8)(9)(10)(11)(12)(13)(14). To determine these haplotypes, speci c restriction enzymes (RE) are used after PCR ampli cation.…”

Section: Introductionmentioning

confidence: 99%

High Level of Heterozygous Haplotype of Hemoglobin in Abidjan

Koui¹,

Albert²,

Adji³

et al. 2021

Preprint

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Background. Sickle cell disease (SCD) is an hemoglobin disorder that concerns 300,000 newborns each year around the world. Hemoglobin haplotypes can modulate SCD clinical expression. In Côte d’Ivoire, no study has yet investigated the distribution of hemoglobin haplotypes in the population. The goal of this study was to identify hemoglobin haplotypes for people attending dispensary with mild malaria in Abidjan (Ivory Coast) independently of their SCD status. Methods To determine haplotypes, specific restriction enzyme (RE) method is used after PCR amplification with different couples of primers. According to the digestion profile of PCR products, five hemoglobin haplotypes are found over the world. ResultsIn Abidjan, four different “classical” haplotypes of hemoglobin were detected: Benin (56.5%), Bantou (28.5%), Senegal (4%), Cameroun (1%). In parallel 10% of atypical profiles were described. Heterozygous haplotype (69%) was more frequent than homozygous haplotype (31%). ConclusionsBenin haplotype usually associated with more severe of SCD symptoms was predominant in the study population. However this preliminary study highlights also a high prevalence of atypical and heterozygous haplotypes in the population.

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“…It has been shown that patients with AI or SEN haplotypes have the highest HbF levels associated with fewer clinical manifestations, and this is likely due to a higher prevalence of the Xmn1-HBG2 polymorphism [ 6 , 14 ]. BEN and CAM haplotypes exhibit an intermediate disease severity [ 20 ]. Meanwhile, patients with CAR haplotypes have the lowest HbF levels, and therefore the worst clinical course [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

Genotypic Diversity among Angolan Children with Sickle Cell Anemia

Delgadinho

Ginete

Santos³

et al. 2021

IJERPH

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Background. Sickle cell anemia (SCA) is an inherited blood disorder that affects over 300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan Africa. Despite being a monogenic disease, SCA shows a remarkably high clinical heterogeneity. Several studies have already demonstrated the existence of some polymorphisms that can provide major clinical benefits, producing a mild phenotype. Moreover, the existence of distinct haplotypes can also influence the phenotype patterns of certain populations, leading to different clinical manifestations. Our aim was to assess the association between polymorphisms in genes previously related to SCA disease severity in an Angolan pediatric population. Methods. This study analyzed clinical and biological data collected from 192 Angolan children. Using NGS data, we classified the HBB haplotypes based on four previously described SNPs (rs3834466, rs28440105, rs10128556, and rs968857) and the genotype for the SNPs in HBG2 (rs7482144), BCL11A (rs4671393, rs11886868, rs1427407, rs7557939), HBS1L-MYB (rs66650371) and BGLT3 (rs7924684) genes. Results. The CAR haplotype was undoubtedly the most common HBB haplotype in our population. The HbF values and the ratio of gamma chains were statistically significant for almost all of the variants studied. We reported for the first time an association between rs7924684 in the BGLT3 gene and gamma chains ratio. Conclusions. The current findings emphasize the importance personalized medicine would have if applied to SCA patient care, since some of the variants studied might predict the phenotype and the overall response to treatment.

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β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

Cited by 12 publications

References 36 publications

Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

High Level of Heterozygous Haplotype of Hemoglobin in Abidjan

Genotypic Diversity among Angolan Children with Sickle Cell Anemia

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βSglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

Cited by 12 publications

References 36 publications

Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

Sickle Cell Disease and Β Globin Gene Haplotypes Among Selected Sudanese Population in North Darfur State

High Level of Heterozygous Haplotype of Hemoglobin in Abidjan

Genotypic Diversity among Angolan Children with Sickle Cell Anemia

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β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease