Características fenotípicas dos pacientes com anemia falciforme de acordo com os haplótipos do gene da βS-globina em Fortaleza, Ceará

Silva, Lilianne B.; Gonçalves, Raquel

doi:10.1590/s1516-84842010005000005

Cited by 9 publications

(4 citation statements)

References 8 publications

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“…A marker of the phenotypic heterogeneity of sickle cell anemia is the influence of the β S globin haplotypes on the clinical condition (Powars and Hiti, 1993;Silva and Gonçalves, 2010). A few studies performed with homozygotes (SS) in Brazil reported correlation between clinical manifestations of sickle cell anemia, fetal hemoglobin (HbF) and the haplotype of beta-S globin allele, including more vaso-occlusive crises and more infections in populations with the Bantu haplotype (Figueiredo et al, 1996;Adorno et al, 2004;Lyra et al, 2005;Silva Filho et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Research Article Clinical and hematological parameter alterations found in sickle cell anemia heterozygotes in Brazil

Souza¹,

Oliveira²,

Guimarães³

et al. 2019

Genet. Mol. Res.

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Heterozygosis for the hemoglobin S allele is a relatively common condition that is clinically benign and rarely presents clinical or hematological manifestations. Although rare, symptoms have been reported in these patients. We examined clinical manifestations and laboratory findings in HbAS individuals that could be related to the β S haplotypes: in 31 heterozygotes, with a predominance of females and young adults, and 43 AA homozygotes considered as a control group from samples previously stored in our laboratory. We performed clinical, biochemical and hematological tests, as well as genotyping by PCR-RFLP for the identification of β S haplotypes. Bantu and Benin haplotypes were equally frequent (n= 7, each) and 17 individuals had shown atypical haplotypes. We observed hematological alterations (e.g. ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (1): gmr18109 L.X. Souza et al. 2 mean corpuscular volume levels) that suggest microcytic and hypochromic anemia; however, we did not find iron deficiency anemia or thalassemia. In the clinical examination, the heterozygote individuals reported pain, especially in the upper and lower limbs and joints, as the most frequent complaint. HbS heterozygotes, different from literature reports, had a significantly greater frequency of anemia-related parameters when compared to normal homozygotes.

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Section: Discussionmentioning

confidence: 99%

Research Article Clinical and hematological parameter alterations found in sickle cell anemia heterozygotes in Brazil

Souza¹,

Oliveira²,

Guimarães³

et al. 2019

Genet. Mol. Res.

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“…Previous reports suggested that the CAR haplotype is associated with a higher incidence of organ damage and the Benin haplotype with a milder form of SCA [10,17,18]. There is a need to understand the mechanisms responsible for hemoglobin switching, as reversing it can provide major therapeutic benefits to persons affected by ␤ hemoglobinopathies [8].…”

Section: Discussionmentioning

confidence: 99%

“…Genetic characteristics affecting clinical severity include variations in the HbF level, the coexistence of alpha-thalassemia, and the haplotype associated with the HbS gene [5][6][7][8][9][10]. The different haplotypes of SCA are Bantu or Central African Republic (CAR), Benin (BEN), Senegal (SEN), Cameroon, and Arab-Indian.…”

Section: Introductionmentioning

confidence: 99%

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DNA damage in leukocytes of sickle cell anemia patients is associated with hydroxyurea therapy and with HBB*S haplotype

Rocha

Elias

Barbosa

et al. 2012

Mutation Research/Genetic Toxicology and Environmental Mutagene

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Hydroxyurea (HU) is the primary pharmacologic agent for preventing the complications and improving the quality of life of sickle cell anemia (SCA) patients. Although HU has been associated with an increased risk of leukemia in some patients with myeloproliferative disorders, the mutagenic and carcinogenic potential of HU has not been established. This study used the alkaline comet assay to investigate DNA damage in peripheral blood leukocytes from 41 individuals with SCA treated with HU (SCAHU) and from 26 normal individuals. The presence of HbS and the analysis of the haplotypes of the beta S gene cluster were done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The damage index (DI) in the SCAHU group was significantly higher than in controls (p<0.001). Neither gender nor age was associated with DNA damage in controls or SCAHU individuals. Among the SCAHU individuals, DI was significantly influenced by length of HU treatment (p=0.0039) and BMI (p=0.001). Individuals with length of HU treatment≥20 months and BMI≤20kg/m(2) had a significantly greater DI than those with length of HU treatment<20 months and BMI>20kg/m(2). No significant influence of mean HU dose was observed on DI (p=0.950). However, individuals who received a mean HU dose≥20mg/kg showed a higher DI than those who received less. Furthermore, an association was observed between DI damage and HBB*S gene haplotypes. DI values for the Bantu/Bantu haplotype was greater when compared to the Benin/Benin haplotype; and the Bantu/Benin haplotype had a DI lower than the Bantu/Bantu haplotype and greater than the Benin/Benin haplotype. Our results show that DNA damage in sickle cell anemia is associated not only with treatment with HU but also with genotype.

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Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort

et al. 2021

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Características fenotípicas dos pacientes com anemia falciforme de acordo com os haplótipos do gene da βS-globina em Fortaleza, Ceará

Cited by 9 publications

References 8 publications

Research Article Clinical and hematological parameter alterations found in sickle cell anemia heterozygotes in Brazil

Research Article Clinical and hematological parameter alterations found in sickle cell anemia heterozygotes in Brazil

DNA damage in leukocytes of sickle cell anemia patients is associated with hydroxyurea therapy and with HBB*S haplotype

Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort

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