Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations

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dc.contributor.advisorWonkam, Ambroiseen_ZA
dc.contributor.advisorVorster, Anna Aen_ZA
dc.contributor.advisorRamesar, Rajkumaren_ZA
dc.contributor.authorRumaney, Maryamen_ZA
dc.date.accessioned2015-12-08T11:46:10Z
dc.date.available2015-12-08T11:46:10Z
dc.date.issued2015en_ZA
dc.description.abstractBackground: Although sickle cell anaemia (SCA) is genetically characterised by a single point mutation, patients can manifest varying degrees of clinical severity due to various genetic modulators that affect the phenotype of this disease. The co-inheritance of alpha-thalassemia (α-thalassemia) has been associated with a milder phenotype in SCA patients (e.g. lower stoke rate), but could also result in the increase of vaso-occlusive (VOC) pain episodes. There is a scarcity of data on the co-inheritance of α-thalassemia and SCA in Cameroon. The present study explored the correlation between α-thalassemia, haematological indices, and clinical events in Cameroonian SCA patients. Materials and Methods: For this cross-sectional study, a full blood count and clinical phenotype profile was collected for 262 Cameroonian individuals. Restriction fragment length polymorphism - polymerase chain reaction (RFLP-PCR) was performed for the molecular diagnosis of SCA and for the study of the β-globin (HBB) gene cluster haplotypes. Multiplex Gap-PCR was performed to investigate the 3.7kb and 4.2kb α-thalassemia gene deletions.en_ZA
dc.identifier.apacitationRumaney, M. (2015). <i>Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/15697en_ZA
dc.identifier.chicagocitationRumaney, Maryam. <i>"Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2015. http://hdl.handle.net/11427/15697en_ZA
dc.identifier.citationRumaney, M. 2015. Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Rumaney, Maryam AB - Background: Although sickle cell anaemia (SCA) is genetically characterised by a single point mutation, patients can manifest varying degrees of clinical severity due to various genetic modulators that affect the phenotype of this disease. The co-inheritance of alpha-thalassemia (α-thalassemia) has been associated with a milder phenotype in SCA patients (e.g. lower stoke rate), but could also result in the increase of vaso-occlusive (VOC) pain episodes. There is a scarcity of data on the co-inheritance of α-thalassemia and SCA in Cameroon. The present study explored the correlation between α-thalassemia, haematological indices, and clinical events in Cameroonian SCA patients. Materials and Methods: For this cross-sectional study, a full blood count and clinical phenotype profile was collected for 262 Cameroonian individuals. Restriction fragment length polymorphism - polymerase chain reaction (RFLP-PCR) was performed for the molecular diagnosis of SCA and for the study of the β-globin (HBB) gene cluster haplotypes. Multiplex Gap-PCR was performed to investigate the 3.7kb and 4.2kb α-thalassemia gene deletions. DA - 2015 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2015 T1 - Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations TI - Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations UR - http://hdl.handle.net/11427/15697 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/15697
dc.identifier.vancouvercitationRumaney M. Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2015 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/15697en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleSickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisationsen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMSc (Med)en_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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