Browsing by Author "Haumann, Carel Eduard"

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    Investigation of an atypical protoporphyric family in South Africa
    (2010) Haumann, Carel Eduard; Meissner, Peter
    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.