Atypical beta-S haplotypes: classification and genetic modulation in patients with sickle cell anemia

Author(s)

Okumura, V, Jessika ; Silva, Danilo G. H. ^[1] ; Torres, Lidiane S. ^[2] ; Belini-Junior, Edis ^[3] ; Venancio, Larissa P. R. ^[4] ; Carrocini, Gisele C. S. ^[2] ; Nascimento, Patricia P. ^[2] ; Lobo, Clarisse L. C. ^[5] ; Bonini-Domingos, Claudia R. ^[2]

Affiliation

^[1] Sao Paulo State Univ UNESP, Inst Biosci Humanities & Exact Sci Ibilce, Dept Chem & Environm Sci, Lab Environm Bioorgan Chem, Campus Sao Jose do Rio Preto, Sao Paulo - Brazil

^[2] Okumura, Jessika, V, Sao Paulo State Univ UNESP, Inst Biosci Humanities & Exact Sci Ibilce, Hemoglobin & Hematol Genet Dis Lab, Dept Biol, Campus Sao Jose do Rio Preto, Sao Paulo - Brazil

^[3] Univ Fed Mato Grosso do Sul, Med Course, UFMS CPTL, Tres Lagoas Campus, Campo Grande, Mato Grosso Do - Brazil

^[4] Westhem Bahia Fed Univ UFOB, Biol Sci & Hlth Ctr, Reitor Edgard Santos Campus, Barreiras, BA - Brazil

^[5] State Inst Hematol Arthur de Siqueira Cavalvanti, Rio De Janeiro - Brazil

• Document type: Journal article
• Source: JOURNAL OF HUMAN GENETICS; v. 64, n. 3, p. 239-248, MAR 2019.
• Web of Science Citations: 0

Abstract

beta-S globin haplotype (beta(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 beta-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. (AU)

• FAPESP's process: 13/07937-8 - Redoxome - Redox Processes in Biomedicine
• Grantee: Ohara Augusto
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• FAPESP's process: 11/14168-5 - Bantu haplotype modulation of the response to the hydroxyurea usage in sickle cell anemia
• Grantee: Jéssika Viviani Okumura
• Support Opportunities: Scholarships in Brazil - Master