| Autor: |
Okumura JV; Department of Biology, Hemoglobin and Hematologic Genetic Diseases Laboratory, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil. jessika_okumura@hotmail.com., Silva DGH; Laboratory of Environmental Bio-Organic Chemistry, Department of Chemistry and Environmental Sciences, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil., Torres LS; Department of Biology, Hemoglobin and Hematologic Genetic Diseases Laboratory, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil., Belini-Junior E; Medicine Course, Federal University of Mato Grosso do Sul, Tres Lagoas Campus - UFMS/CPTL, Mato Grosso do Sul, Brazil., Venancio LPR; Westhern Bahia Federal University (UFOB), Reitor Edgard Santos Campus - Biological Science and Health Center, Barreiras, Bahia, Brazil., Carrocini GCS; Department of Biology, Hemoglobin and Hematologic Genetic Diseases Laboratory, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil., Nascimento PP; Department of Biology, Hemoglobin and Hematologic Genetic Diseases Laboratory, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil., Lobo CLC; State Institute of Hematology 'Arthur de Siqueira Cavalvanti' (HEMORIO), Rio de Janeiro, Brazil., Bonini-Domingos CR; Department of Biology, Hemoglobin and Hematologic Genetic Diseases Laboratory, Institute of Bioscience, Humanities and Exact Sciences (Ibilce), São Paulo State University (UNESP), Campus Sao Jose do Rio Preto, Sao Paulo, Brazil. |
| Abstrakt: |
β-S globin haplotype (β S haplotype) characterization in sickle cell anemia (SCA) patients is important because it assists individualized treatment. However, the patient with atypical haplotypes do not present detailed studies such as clinical and laboratory data. To understand the phenotypic expression of atypical haplotype patients in relation to typical haplotype ones, it may be necessary to assess the main clinical and laboratorial parameters and investigate transcription factors, as possible genetic modulators that can contribute to the improvement of the SCA patients' clinical condition. The study group was composed of 600 SCA Brazilian patients of both genders ranging in age from 1 to 68 years. The atypical haplotypes were the third most frequent (5.7%) with 11 patterns numerically ranked according to occurrence. We verified that patients with atypical 1 haplotype in combination with Bantu haplotype presented milder clinical outcomes in relation to Bantu/Bantu and Benin/Benin patients, according to improved values of hemoglobin and hematocrit. In clinical severity, we did not observe significant statistical differences between typical and atypical haplotype patients, and this result can be explained with reference to the action of transcription factors in β-globin cluster. Thus, we presented the atypical haplotype relationship with SCA pathophysiology, reinforcing the hypothesis that individual genetic factors may be responsible for phenotypic diversity of the disease. |
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