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Investigation of an atypical protoporphyric family in South Africa
Includes bibliographical references (leaves 171-184).
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Division of Anatomical Pathology
2015
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| _version_ | 1867613307336130560 |
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| access_status_str | Open Access |
| author | Haumann, Carel Eduard |
| author2 | Meissner, Peter |
| author_browse | Haumann, Carel Eduard Meissner, Peter |
| author_facet | Meissner, Peter Haumann, Carel Eduard |
| author_sort | Haumann, Carel Eduard |
| collection | Thesis |
| description | Includes bibliographical references (leaves 171-184). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/11184 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:03.682Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2015 |
| publishDateRange | 2015 |
| publishDateSort | 2015 |
| publisher | Division of Anatomical Pathology |
| publisherStr | Division of Anatomical Pathology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/11184 Investigation of an atypical protoporphyric family in South Africa Haumann, Carel Eduard Meissner, Peter Clinical Pathology Includes bibliographical references (leaves 171-184). 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. 2015-01-03T18:19:26Z 2015-01-03T18:19:26Z 2010 Master Thesis Masters MMed http://hdl.handle.net/11427/11184 eng application/pdf Division of Anatomical Pathology Faculty of Health Sciences University of Cape Town |
| spellingShingle | Clinical Pathology Haumann, Carel Eduard Investigation of an atypical protoporphyric family in South Africa |
| thesis_degree_str | Master's |
| title | Investigation of an atypical protoporphyric family in South Africa |
| title_full | Investigation of an atypical protoporphyric family in South Africa |
| title_fullStr | Investigation of an atypical protoporphyric family in South Africa |
| title_full_unstemmed | Investigation of an atypical protoporphyric family in South Africa |
| title_short | Investigation of an atypical protoporphyric family in South Africa |
| title_sort | investigation of an atypical protoporphyric family in south africa |
| topic | Clinical Pathology |
| url | http://hdl.handle.net/11427/11184 |
| work_keys_str_mv | AT haumanncareleduard investigationofanatypicalprotoporphyricfamilyinsouthafrica |