Molecular characterisation of acute intermittent porphyria in South Africa

Master Thesis

2014

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http://hdl.handle.net/11427/6556
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thesis_hsf_2014_fortgens_ph.pdf (5.62 MB)
Authors
Fortgens, Philip Hendrik
Supervisors
Meissner, Peter
Corrigall, Anne
Berman, Peter
Pillay, Tahir
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University of Cape Town

Department
Division of Chemical Pathology
Faculty
Faculty of Health Sciences
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Abstract
Acute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an understanding of the molecular basis of AIP in South Africa, and provide a platform for the screening of family members of affected patients. Identification of latent carriers would allow for education with respect to precipitants and how best to avoid them, so as to minimise the risk of provoking an acute attack.
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Includes abstract.


Includes bibliographical references.

Reference:

Fortgens, P. 2014. Molecular characterisation of acute intermittent porphyria in South Africa. University of Cape Town.

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