3rd Applied Genetics Workshop

GeneTalk Workshop

Disorders of Iron Metabolism and Well-being

3rd Applied Genetics Workshop: 27 May 2009 from 9h00-16h00

: Faculty of Health Sciences, Teaching Block, 4th Floor, Lecture Room K4053B, University of Stellenbosch, Tygerberg


8h30 Registration


Introduction: Iron disorders in haematology

Prof Akin Abayomi – Head: Division of Haematology, University of Stellenbosch and NHLS, Tygerberg


The role of iron regulatory proteins in iron homeostasis, anaemia, and neurodegeneration

Dr Tracey Rouault – Head: Molecular Medicine Program, Section on Human Iron Metabolism, NIH, USA.


Influence of the iron-carrier protein transferrin on age of onset in patients with Alzheimer’s disease

Dr SJ van Rensburg – Division of Chemical Pathology, University of Stellenbosch and NHLS




The role of iron metabolism in health and disease: A clinical overview

Dr Johan van Wyk – Division of Chemical Pathology, University of Stellenbosch and NHLS


Men of iron, steel magnolias: What you should know about haemochromatosis

Dr Erna Mansvelt – Ampath, N1 City Medical Chambers, N1 City, Goodwood


The tired patient: Too much or too little iron in the diet?

Dr Dawie van Velden – Dept of Pathology, University of Stellenbosch, Tygerberg


Lunch break


Application of a web-based genetic testing service delivery system: Addressing the iron-heart disease link

Dr Maritha Kotze – Dept of Pathology, University of Stellenbosch, Tygerberg


The significance of haemochromatosis mutations in patients with non-alcoholic fatty liver (NAFLD) disease

Dr Corne Kruger – Private practicing physician and gastroenterologist, Durbanville Medi-Clinic


Effects of (iron-containing) Rooibos tea on antioxidant parameters in volunteers at risk of cardiovascular disease

Dr Jeanine Marnewick
Oxidative Stress Research Centre, Faculty of Health and Wellness Sciences, Cape Peninsula University of Technology



Haemochromatosis: Genetic counselling, ethics and insurance

Frieda Louser – Private practicing genetic counsellor, Christiaan Barnard Memorial Hospital and NHLS, University of Cape Town.




Kirsten Alberts – Haemochromatosis Society of South Africa


This GeneTalk event was designed to provide a comprehensive and up-to-date overview of recent advances in the field of iron-related disorders and research. A synopsis of the workshop content was provided in the workshop handout pages, with particular focus on the preventable genetic disorder hereditary haemochromatosis (HH).

With the completion of the Human Genome Project in 2003, a vast amount of information on genetic variability has become available. Despite the extensive data on the role of genetic variation in human disease, its translation into clinical practice has been slow due to the time required to accumulate population data on mutation frequencies, understand the significance of individual gene variants in disease expression, and develop suitable diagnostic tests.

Despite the above-mentioned limitations, clinicians have very rapidly benefited from molecular genetic research on haemochromatosis, as use of genetic testing in conjunction with assessment of serum iron status has drastically reduced the need for liver biopsy to confirm or exclude disease diagnosis. Early detection of this preventable genetic disorder presents a major healthcare opportunity to reduce the burden of heart disease, cancer, diabetes, arthritis, infertility and many other complications of organ damage in the population.

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