Beta-globin gene cluster haplotypes in Venezuelan sickle cell patients from the State of Aragua

Moreno, Nancy; Martínez, José Antônio Baddini; Blanco, Zorella; Osorio, Leidys; Hackshaw, Patrick

doi:10.1590/s1415-47572002000100005

Cited by 10 publications

(6 citation statements)

References 23 publications

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“…These findings are compatible with historical and demographic data on the origin of African slaves that indicate a major contribution by individuals from Bantu-speaking groups (Isola, 1975). The predominance of the Bantu haplotype has also been observed in many other countries and regions of South America (Muniz et al , 1995; Pante de Sousa, 1999; Moreno et al , 2002). In the Americas, the Benin haplotype is most frequent in the north of South America, the Caribbean region and North America (Antonarakis et al , 1984; Arends et al , 2000; Vivenes de Lugo et al , 2003; Galiza Neto et al , 2004; Adorno et al , 2005) whereas the Senegal haplotype is found in high frequencies in isolated Amazonian Afro-Brazilian communities (Pante de Sousa et al , 1999).…”

Section: Discussionmentioning

confidence: 66%

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

et al. 2013

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Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had β-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was found exclusively in individuals with declared African ancestry and had a carrier frequency of 2.2%. The frequency of α-thalassemia carriers in outpatients of European and African ancestry was 1.2% and 6.5%, respectively. In contrast, the frequency of α-thalassemia carriers in patients with microcytic anemia was 25.8%, significantly higher (p < 0.01) than that observed in the sample as a whole and in Afro-descendants and Euro-descendants. Significant differences were observed in the hematological parameters between individuals with thalassemia genotypes and those with a normal genotype. These results indicate that hemoglobinopathies are a relevant health problem in Uruguay.

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Section: Discussionmentioning

confidence: 66%

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

et al. 2013

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“…The importance of screening programs is based on the fact that they can lead globin gene complex. Five different haplotypes (haplotypes 19,20,17,3,31) labmedicine.com to early diagnosis, prophylactic penicillin therapy to prevent fatal pneumococcal sepsis, parental education, and comprehensive medical care. 10 In order for the programs to be effective, they should include education, laboratory testing, and counseling.…”

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confidence: 99%

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

Ogedegbe

2007

Laboratory Medicine

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“…N: number of chromosomes;*mean frequency for Brazilian populations showed in Table 1;**mean frequency for Arends et al ., 2000; Moreno et al. , 2002.…”

Section: Resultsmentioning

confidence: 99%

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

et al. 2016

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Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management.

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Beta-globin gene cluster haplotypes in Venezuelan sickle cell patients from the State of Aragua

Cited by 10 publications

References 23 publications

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

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

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

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