The Application of Clinical Genetics (May 2020)
Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study
Abstract
Oladele Simeon Olatunya,1,2 Dulcineia Martins Albuquerque,1 Magnun Nueldo Nunes Santos,3 Tolorunju Segun Kayode,4 Adekunle Adekile,5 Fernando Ferreira Costa1 1Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo State, Brazil; 2Department of Paediatrics, College of Medicine, Ekiti State University, Ado Ekiti, Ekiti State, Nigeria; 3Department of Clinical Pathology, School of Medical Sciences, University of Campinas, Campinas, São Paulo State, Brazil; 4Department of Chemical Pathology, Ekiti State University Teaching Hospital, Ado Ekiti, Ekiti State, Nigeria; 5Department of Pediatrics, Faculty of Medicine, Kuwait University, Jabriya, KuwaitCorrespondence: Oladele Simeon Olatunya Email [email protected]: To determine the various haptoglobin genotypes and their influence on the clinico-laboratory manifestations among young Nigerian sickle cell anemia (SCA) patients.Patients and Methods: A total of 101 SCA patients and 64 controls were studied. SCA was diagnosed by polymerase chain reaction (PCR). Haptoglobin genotype was determined by PCR followed by agarose gel electrophoresis. The patients’ laboratory and clinical parameters were differentiated by haptoglobin genotypes.Results: The Hp1 and Hp2 alleles frequencies were 0.62 and 0.38 in the patients and 0.73 and 0.27 in the controls, respectively, and these did not differ significantly (p> 0.05). The haptoglobin genotype distribution among the patients and controls were Hp1-1, 43 (42.6%); Hp2-1, 40 (39.6%); Hp2-2, 18 (17.8%) and Hp1-1, 35 (54.7%); Hp2-1, 24 (37.5%); Hp2-2, 5 (7.8%), respectively, with no difference between the two groups (P> 0.05). No significant difference was found in the clinical events and laboratory parameters of the patients when partitioned according to the various haptoglobin genotypes (P> 0.05).Conclusion: This study found that haptoglobin gene polymorphism does not have a significant influence on the clinico-laboratory manifestations among SCA patients.Keywords: haptoglobin gene polymorphism, sickle cell disease, clinico-laboratory manifestations