Investigation of an atypical protoporphyric family in South Africa

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dc.contributor.advisorMeissner, Peteren_ZA
dc.contributor.authorHaumann, Carel Eduarden_ZA
dc.date.accessioned2015-01-03T18:19:26Z
dc.date.available2015-01-03T18:19:26Z
dc.date.issued2010en_ZA
dc.descriptionIncludes bibliographical references (leaves 171-184).en_ZA
dc.description.abstractAffected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria. Further examination of this family revealed features that were atypical of erythropoietic protoporphyria. These included a highly penetrant disease, disease severity as expressed by more prevalent hepatic complications, a preponderance of protoporphyrin in its zinc chelated form, a therapeutic response to iron supplementation, and an absence of mutations in the ferrochelatase gene or haplotype markers associated with erythropoietic protoporphyria. We have reviewed clinical data from this family, established a ferrochelatase enzyme assay in our laboratory, and shown normal ferrochelatase enzyme activity in affected subjects.en_ZA
dc.identifier.apacitationHaumann, C. E. (2010). <i>Investigation of an atypical protoporphyric family in South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Anatomical Pathology. Retrieved from http://hdl.handle.net/11427/11184en_ZA
dc.identifier.chicagocitationHaumann, Carel Eduard. <i>"Investigation of an atypical protoporphyric family in South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Anatomical Pathology, 2010. http://hdl.handle.net/11427/11184en_ZA
dc.identifier.citationHaumann, C. 2010. Investigation of an atypical protoporphyric family in South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Haumann, Carel Eduard AB - Affected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria. Further examination of this family revealed features that were atypical of erythropoietic protoporphyria. These included a highly penetrant disease, disease severity as expressed by more prevalent hepatic complications, a preponderance of protoporphyrin in its zinc chelated form, a therapeutic response to iron supplementation, and an absence of mutations in the ferrochelatase gene or haplotype markers associated with erythropoietic protoporphyria. We have reviewed clinical data from this family, established a ferrochelatase enzyme assay in our laboratory, and shown normal ferrochelatase enzyme activity in affected subjects. DA - 2010 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2010 T1 - Investigation of an atypical protoporphyric family in South Africa TI - Investigation of an atypical protoporphyric family in South Africa UR - http://hdl.handle.net/11427/11184 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/11184
dc.identifier.vancouvercitationHaumann CE. Investigation of an atypical protoporphyric family in South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Anatomical Pathology, 2010 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/11184en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Anatomical Pathologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherClinical Pathologyen_ZA
dc.titleInvestigation of an atypical protoporphyric family in South Africaen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMMeden_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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