β-Globin Gene Cluster Haplotype Analysis as a Predictor of Sickle Cell Disease Severity

Ogedegbe, Henry O.

doi:10.1309/xfmfqn614ur7gqgh

Cited by 4 publications

(6 citation statements)

References 39 publications

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“…These four haplotypes include the Senegal haplotype (West Africa), the Benin (Central West Africa), the Bantu haplotype (Central, East and Southern Africa) and the Cameroon haplotype. A fifth haplotype was also documented in Eastern Saudi Arabia and India and thus called the Arab-Indian haplotype (13,17,21). In the current study, the most frequently encountered was the Benin haplotype, seen in about 70.0% of cases.…”

Section: Discussionsupporting

confidence: 56%

“…The Arab-Indian haplotype has been reported in Eastern Saudi Arabs (13,26) and Western Indians (27) as well as Iranians (28,29) and in countries of the Gulf such as Kuwait (30) and the United Arab Emirates (31) ( Table 3). In these populations, it has always been linked with a milder phenotype and high Hb F values (17). Actually, Hb F levels in homozygotes for the Arab-Indian haplotype in the current study were among the highest with a mean of 21.3% (range 12.5-28.0%).…”

Section: Discussionmentioning

confidence: 43%

“…Several factors have been implicated Benin/Benin [À À À À À þ/À À À À À þ] 38 59.4 Arab-Indian/Arab-Indian [þ þ þ À þ þ/þ þ þ À þ þ] 6 9.4 Benin/BantuA1 [À À À À À þ/À À À À À À] 5 7.8 Arab-Indian/Atypical Benin [þ þ þ À þ þ/þ À À À À þ] 2 3.1 BantuA1/BantuA1 [À À À À À À/À À À À À À] 2 3.1 Benin/Atypical [À À À À À þ/À À þ À þ þ] 2 3.1 Benin/Atypical [À À À À À þ/À À þ À À þ] 2 3.1 Benin/Arab-Indian [À À À À À þ/þ þ þ À þ þ] 1 1.6 Benin/Atypical Benin [À À À À À þ/þ À À À À þ] 1 1.6 Benin/Atypical [À À À À À þ/À À À À þ þ] 1 1.6 Benin/Atypical [À À À À À þ/À À À À þ À] 1 1.6 Arab-Indian/BantuA1 [þ þ þ À þ þ/À À À À À À] 1 1.6 Atypical/Atypical [À À þ À À þ/À À þ À À þ] in determining sickle cell disease severity, including levels of Hb F and the βglobin gene haplotype, associated β-thal mutations or β chain variants, number of α-globin genes and gender (17). The current study revealed that our enrolled patients included 68.0% Hb SS, 24.2% Hb S/β 0 -thal and 7.8% Hb S/ β þ -thal, but no cases of compound heterozygotes for Hb S with other β chain variants.…”

Section: Discussionmentioning

confidence: 99%

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Sickle Cell Disease in the Kurdish Population of Northern Iraq

Al-Allawi¹,

Jalal

Nerwey³

et al. 2012

Hemoglobin

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Epidemiological studies have revealed that sickle cell disease patients are clustered in two geographical areas in Iraq, one among the Arabs in the extreme south, another among the Kurdish population in the extreme north, where they constitute major health problems. However, no studies have focused on the genotypes responsible for sickle cell disease or the β-globin gene haplotypes associated with it. For the latter purpose, a total of 103 unrelated Kurdish sickle cell disease patients were evaluated by restriction fragment length polymorphism (RFLP) for the sickle cell mutation, followed by multiplex polymerase chain reaction (PCR) and reverse hybridization for β- and α-thalassemia (β- and α-thal) mutations, whenever indicated. Results showed that the most common genotype was sickle cell anemia (68.0%) followed by Hb S/β(0)-thal and Hb S/β(+)-thal at frequencies of 24.2 and 7.8%, respectively. Eight β-thal mutations were associated with the latter two genotypes including: IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codon 44 (-C), codon 22 (-7 bp), IVS-I-1 (G>A), codon 30 (G>C) and IVS-I-6 (T>C). In Hb SS patients, the -α(3.7) deletion was documented in 10.0% and was the only α-thal mutation detected. Furthermore, 5' β-globin gene cluster haplotyping of 128 β(S) chromosomes revealed that the most common haplotype seen in 69.5% was the Benin haplotype, followed by the Arab-Indian haplotype in 12.5%. These latter findings closely resemble reports from neighboring Turkey, Syria, Jordan, Lebanon and Mediterranean countries, suggesting a possible common origin, but are in contrast to findings from the Eastern Arabian Peninsula and Iran.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 43%

Section: Discussionmentioning

confidence: 99%

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Sickle Cell Disease in the Kurdish Population of Northern Iraq

Al-Allawi¹,

Jalal

Nerwey³

et al. 2012

Hemoglobin

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“…These haplotypes are important determinants of disease severity and HbF levels in patients with SCA, with the Arab-Indian and Sengal haplotypes being associated with higher HbF levels and milder clinical presentation in homozygous patients. On the other hand, the other three haplotypes are associated with low HbF and more severe clinical phenotypes with the Bantu haplotype being the most severe (Ogedegbe 2007). Among Arabs three of the five major haplotypes constitute the bulk of the haplotypes associated with the β S mutation.…”

Section: The Spectrum Of α-Thalassemia Mutations In Arab Countriesmentioning

confidence: 99%

Epidemiological profile of common haemoglobinopathies in Arab countries

Hamamy

Al-Allawi

2012

J Community Genet

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Haemoglobinopathies including the thalassemias and sickle cell disease are known to be prevalent inherited disorders in most Arab countries with varying prevalence rates and molecular characterisation. β-thalassemia is encountered in polymorphic frequencies in almost all Arab countries with carrier rates of 1-11 % and a varying number of mutations. The most widespread mutation in Lebanon, Egypt, Syria, Jordan, Tunisia and Algeria is the IVS-I-110 (G>A). In the Eastern Arabian Peninsula, the Asian Indian mutations (IVS-I-5 (G>C), codons 8/9 (+G) and IVS-I (−25 bp del)) are more common. The α-thalassemias are encountered in the majority of Arab countries in frequencies ranging from 1 to 58 % with the highest frequencies reported from Gulf countries. The (−α 3.7 ) mutation is the most frequent followed by the non-deletional α2 polyadenylation signal mutation (AATAAA>AATAAG) and the α2 IVS1 5-bp deletion. The rates of sickle cell trait in Arab countries range from 0.3 to 30 %, with the Benin, the Arab-Indian and the Bantu haplotypes constituting the bulk of the haplotypes, leading to two major phenotypes; a mild one associated with the Arab-Indian and a severe one with the Benin and Bantu haplotypes. Public health approaches targeting prevention of haemoglobinopathies in Arab countries include newborn screening for sickle cell disease, and premarital screening for carriers of β-thalassemia and sickle cell disease. These services are still patchy and inadequate in many Arab countries recommending the upgrade of these services with strengthening of the education and training of health care providers and raising public awareness on the feasibility of prevention and care for haemoglobinopathies.

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“…The b-globin gene cluster haplotype is a cis-acting determinant, which serves as a marker for the genetic background of HbSS disease patients and for predicting disease severity [13] [14,15]. Several studies have suggested that the clinical severity of SCA is associated with b-globin gene haplotypes [16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh

Bhagat

Thakur

2018

Ind J Clin Biochem

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The present study was conducted to investigate the frequency of b-globin gene haplotype and their influence on oxidative stress, antioxidant level and inflammation of sickle cell patient of Chhattisgarh. The serum levels of total antioxidant capacity, oxidative stress and inflammation were measured in hundred SCD patients. The mean serum CRP and MDA levels were significantly (p \ 0.0001) lower in Arab-Indian haplotype when compared with Bantu and other haplotype. However, the antioxidant capacity and HbF levels were significantly higher in Arab-Indian haplotype. These result indicate that b-globin gene haplotype have a role in modulating disease severity in SCD patients of Chhattisgarh.

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β-Globin Gene Cluster Haplotype Analysis as a Predictor of Sickle Cell Disease Severity

Cited by 4 publications

References 39 publications

Sickle Cell Disease in the Kurdish Population of Northern Iraq

Sickle Cell Disease in the Kurdish Population of Northern Iraq

Epidemiological profile of common haemoglobinopathies in Arab countries

Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh

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