Comparative Study of Sickle Cell Anemia and Hemoglobin SC Disease: Clinical Characterization, Laboratory Biomarkers and Genetic Profiles

Overview

Journal BMC Hematol

Publisher Biomed Central

Specialty Hematology

Date 2017 Sep 22

PMID 28932402

Citations 16

Authors

Milena Magalhaes Aleluia

Teresa Cristina Cardoso Fonseca

Regiana Quinto Souza

Fabia Idalina Neves

Caroline Conceicao da Guarda

Rayra Pereira Santiago

Bruna Lais Almeida Cunha

Camylla Villas Boas Figueiredo

Sanzio Silva Santana

Silvana Sousa da Paz

Junia Raquel Dutra Ferreira

Bruno Antonio Veloso Cerqueira

Marilda de Souza Goncalves

Affiliations

Soon will be listed here.

Abstract

Background: In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes.

Methods: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the β-globin gene haplotypes and the 3.7 Kb deletion of α-thalassemia (-α-thal), as well as the occurrence of clinical events in both SCD genotypes.

Results: Laboratory parameters showed a hemolytic profile associated with endothelial dysfunction in SCA individuals; however, the HbSC genotype was more associated with increased blood viscosity and inflammatory conditions. The BEN haplotype was the most frequently observed and was associated with elevated fetal hemoglobin (HbF) and low S hemoglobin (HbS). The -α-thal prevalence was 0.09 (9%), and it was associated with elevated hemoglobin and hematocrit concentrations. Clinical events were more frequent in SCA patients.

Conclusions: Our data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.

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References

Steinberg M . Predicting clinical severity in sickle cell anaemia. Br J Haematol. 2005; 129(4):465-81. DOI: 10.1111/j.1365-2141.2005.05411.x. View

Steinberg M, COLEMAN M, Adams J, Rosenstock W . Interaction between HBS-beta-o-thalassemia and alpha-thalassemia. Am J Med Sci. 1984; 288(5):195-9. DOI: 10.1097/00000441-198412000-00001. View

Loureiro M, Rozenfeld S . [Epidemiology of sickle cell disease hospital admissions in Brazil]. Rev Saude Publica. 2005; 39(6):943-9. DOI: 10.1590/s0034-89102005000600012. View

Sutton M, Bouhassira E, Nagel R . Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol. 1989; 32(1):66-9. DOI: 10.1002/ajh.2830320113. View

Kato G, Gladwin M, Steinberg M . Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev. 2006; 21(1):37-47. PMC: 2048670. DOI: 10.1016/j.blre.2006.07.001. View

Adegoke S, Adeodu O, Adekile A . Sickle cell disease clinical phenotypes in children from South-Western, Nigeria. Niger J Clin Pract. 2014; 18(1):95-101. DOI: 10.4103/1119-3077.146987. View

Lyra I, Goncalves M, Braga J, Gesteira M, Carvalho M, Saad S . Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil. Cad Saude Publica. 2005; 21(4):1287-90. DOI: 10.1590/s0102-311x2005000400032. View

Dixit R, Nettem S, Madan S, Soe H, Abas A, Vance L . Folate supplementation in people with sickle cell disease. Cochrane Database Syst Rev. 2016; 2:CD011130. PMC: 5440187. DOI: 10.1002/14651858.CD011130.pub2. View

Aleluia M, Santiago R, da Guarda C, Fonseca T, Neves F, Quinto R . Genetic modulation of fetal hemoglobin in hydroxyurea-treated sickle cell anemia. Am J Hematol. 2017; 92(5):E70-E72. PMC: 5389903. DOI: 10.1002/ajh.24680. View

10.

Nagel R, Fabry M . Sickle cell anemia as a multigenetic disease: new insights into the mechanism of painful crisis. Prog Clin Biol Res. 1984; 165:93-102. View

11.

Nwenyi E, Leafman J, Mathieson K, Ezeobah N . Differences in quality of life between pediatric sickle cell patients who used hydroxyurea and those who did not. Int J Health Care Qual Assur. 2014; 27(6):468-81. DOI: 10.1108/IJHCQA-01-2013-0008. View

12.

Ballas S, Kesen M, Goldberg M, Lutty G, Dampier C, Osunkwo I . Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management. ScientificWorldJournal. 2012; 2012:949535. PMC: 3415156. DOI: 10.1100/2012/949535. View

13.

Harteveld C, Higgs D . Alpha-thalassaemia. Orphanet J Rare Dis. 2010; 5:13. PMC: 2887799. DOI: 10.1186/1750-1172-5-13. View

14.

Chong S, Boehm C, Higgs D, Cutting G . Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood. 1999; 95(1):360-2. View

15.

Kato G, Hebbel R, Steinberg M, Gladwin M . Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions. Am J Hematol. 2009; 84(9):618-25. PMC: 3209715. DOI: 10.1002/ajh.21475. View

16.

Raphael J, Dietrich C, Whitmire D, Mahoney D, Mueller B, Giardino A . Healthcare utilization and expenditures for low income children with sickle cell disease. Pediatr Blood Cancer. 2008; 52(2):263-7. DOI: 10.1002/pbc.21781. View

17.

Wun T, Paglieroni T, Tablin F, Welborn J, Nelson K, Cheung A . Platelet activation and platelet-erythrocyte aggregates in patients with sickle cell anemia. J Lab Clin Med. 1997; 129(5):507-16. DOI: 10.1016/s0022-2143(97)90005-6. View

18.

Powars D . Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. Hematol Oncol Clin North Am. 1991; 5(3):475-93. View

19.

Rees D, Gibson J . Biomarkers in sickle cell disease. Br J Haematol. 2011; 156(4):433-45. DOI: 10.1111/j.1365-2141.2011.08961.x. View

20.

Steinberg M, Sebastiani P . Genetic modifiers of sickle cell disease. Am J Hematol. 2012; 87(8):795-803. PMC: 4562292. DOI: 10.1002/ajh.23232. View