For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
16
views
22
references
 Top references
cited by
5
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      607
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Purpose

          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.

          Related collections

          Most cited references22

          • Record: found
          • Abstract: found
          • Article: not found

          Biological and clinical significance of haptoglobin polymorphism in humans.

          M. F. Langlois, J Delanghe (1996)
          Haptoglobin is a hemoglobin-binding protein expressed by a genetic polymorphism as three major phenotypes: 1-1, 2-1, and 2-2. Most attention has been paid to determining haptoglobin phenotype as a genetic fingerprint used in forensic medicine. More recently, several functional differences between haptoglobin phenotypes have been demonstrated that appear to have important biological and clinical consequences. Haptoglobin polymorphism is associated with the prevalence and clinical evolution of many inflammatory diseases, including infections, atherosclerosis, and autoimmune disorders. These effects are explained by a phenotype-dependent modulation of oxidative stress and prostaglandin synthesis. Recent evidence is growing that haptoglobin is involved in the immune response as well. The strong genetic pressure favoring the 2-2 phenotype suggests an important role of haptoglobin in human pathology.
          Article 0 comments Cited 160 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Definitions of the phenotypic manifestations of sickle cell disease.

            Samir K. Ballas, Susan Lieff, Lennette J. Benjamin … (2010)
            Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, readily accessible population for clinical studies has contributed to the absence of standard definitions and diagnostic criteria for the numerous complications of SCD and inadequate understanding of SCD pathophysiology. In 2005, the Comprehensive Sickle Cell Centers initiated a project to establish consensus definitions of the most frequently occurring complications. A group of clinicians and scientists with extensive expertise in research and treatment of SCD gathered to identify and categorize the most common complications. From this group, a formal writing team was formed that further reviewed the literature, sought specialist input, and produced definitions in a standard format. This article provides an overview of the process and describes 12 body system categories and the most prevalent or severe complications within these categories. A detailed Appendix provides standardized definitions for all complications identified within each system. This report proposes use of these definitions for studies of SCD complications, so future studies can be comparably robust and treatment efficacy measured. Use of these definitions will support greater accuracy in genotype-phenotype studies, thereby achieving a better understanding of SCD pathophysiology. This should nevertheless be viewed as a dynamic rather than final document; phenotype descriptions should be reevaluated and revised periodically to provide the most current standard definitions as etiologic factors are better understood, and new diagnostic options are developed. (c) 2009 Wiley-Liss, Inc.
            Article 0 comments Cited 81 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Genetic modifiers of sickle cell disease.

              Martin H. Steinberg, Paola Sebastiani (2012)
              Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new "druggable" pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. Copyright © 2012 Wiley Periodicals, Inc.
              Article 0 comments Cited 67 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Appl Clin Genet
                Journal ID (iso-abbrev): Appl Clin Genet
                Journal ID (publisher-id): TACG
                Journal ID (pmc): tacg
                Title: The Application of Clinical Genetics
                Publisher: Dove
                ISSN (Electronic): 1178-704X
                Publication date (Electronic): 08 May 2020
                Publication date Collection: 2020
                Volume: 13
                Pages: 107-114
                Affiliations
                [1 ]Hematology and Hemotherapy Center, University of Campinas , Campinas, São Paulo State, Brazil
                [2 ]Department of Paediatrics, College of Medicine, Ekiti State University , Ado Ekiti, Ekiti State, Nigeria
                [3 ]Department of Clinical Pathology, School of Medical Sciences, University of Campinas , Campinas, São Paulo State, Brazil
                [4 ]Department of Chemical Pathology, Ekiti State University Teaching Hospital , Ado Ekiti, Ekiti State, Nigeria
                [5 ]Department of Pediatrics, Faculty of Medicine, Kuwait University , Jabriya, Kuwait
                Author notes
                Correspondence: Oladele Simeon Olatunya Email ladeletunya@yahoo.com
                Author information
                http://orcid.org/0000-0003-2564-3064
                http://orcid.org/0000-0003-4451-3716
                http://orcid.org/0000-0001-6908-4538
                http://orcid.org/0000-0002-4632-572X
                Article
                Publisher ID: 246607
                DOI: 10.2147/TACG.S246607
                PMC ID: 7217459
                PubMed ID: 32440193
                SO-VID: 8542de8f-2df7-44fc-bde8-e5ed40a1dbd4
                Copyright © © 2020 Olatunya et al.
                License:

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                History
                Date received : 20 January 2020
                Date accepted : 26 March 2020
                Page count
                Figures: 2, Tables: 4, References: 25, Pages: 8
                Funding
                This study was supported by grants No 2014/00984-3 from the São Paulo Research Foundation, and grants No 2015/141693-0 from the Brazilian National Council for Scientific and Technological Development, Brazil.
                Categories
                Subject: Original Research

                Keywords: haptoglobin gene polymorphism,sickle cell disease,clinico-laboratory manifestations
                Data availability:
                Keywords: haptoglobin gene polymorphism, sickle cell disease, clinico-laboratory manifestations

                Comments

                Comment on this article

                scite_

                Similar content607

                See all similar

                Cited by5

                See all cited by

                Most referenced authors389

                See all reference authors