SAIDA - The South African Inherited Disorders Association

Cystic Fibrosis (CF) is a single gene disorder common in the Caucasoid and "Mixed" population groups. In South Africa, 1 in about 2000 liveborn white infants are affected with this condition. The high incidence is the result of the high frequency of CF carriers in the general population. One in about 23 whites and 1 in about 55 people of the "mixed" population group is an asymptomatic carrier of this recessive disease. CF is less common among Asians and is rare in the black population. CF is inherited as an autosomal recessive trait, which means that two copies of the defective CF gene need to be present in an individual before the condition is manifested.

People with CF present primarily with recurrent lung infections and by a failure to thrive, due to the inability of the digestive system to digest and absorb nutrients. The secretion of thick viscous mucus in the lungs promotes infections, which cause progressive lung damage. The pancreas also secretes thick and sticky mucus which blocks the ducts and prevents the pancreatic juices from reaching the stomach where they are needed to digest food. Diet supplementation with pancreatic enzymes is used to overcome this problem.

The gene which causes CF has been identified and found to be situated on chromosome 7. This is the "CF transmembrane conductance regulator-CFTR-gene". There are many different mutations in this gene which cause CF, but one, called delta F508, is the most common.

There are strong parent support groups for CF in South Africa. The national body is called the South African Cystic Fibrosis Association. There are regional branches in Johannesburg, Cape Town and Durban, as well as in Pretoria and Port Elizabeth. For more information please contact 27-11-867-5538.

Cystic Fibrosis Association: Gauteng

P.O Box 145691
Bracken Gardens
1452
Tel: (011) 867-5538
Email: cfa@iafrica.com

Cystic Fibrosis Association: Kwazulu/Natal

Dan Hoffman
P.O Box 35079
Northway
4065
Tel: (031) 563-2359
Email: kzncfd@global.co.za

Cystic Fibrosis Association: Western Cape

Mrs K Katz
74 Nenna Crescent
Fish Hoek
7975
Tel: (021) 782-1226

The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing. IBIS Appeal IBIS Newsletter

Medical Genetic and Counselling Services Genetic counselling is a process whereby patients and their families are assisted in addressing their concerns relating to the development or transmission of a genetic disorder. Medical diagnosis, prognosis, the genetics and recurrence risks of the presenting disorder, together with providing families with options to deal with their risks and manage the disorder in the best possible way, are the primary aims of our genetic counselling service. The multidisciplinary team consists of medical geneticists, medical officers, genetic counsellors and students in training. To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following. Tel: (011) 489-9224 Fax: (011) 489-9224

The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information.

The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information.