In many developing countries the haemoglobinopathies (thalassaemias and sickle-cell disorder) are so common that they provide a convenient model for working out a genetic approach to control of chronic childhood diseases. At present, about 250 million people (4.5% of the world population) carry a potentially pathological haemoglobinopathy gene. Each year about 300,000 infants are born with major haemoglobinopathies. Haemoglobinopathy control programmes, based on WHO approaches and recommendations, have been established in different countries in all WHO Regions and have been successful in management of the problem. Following WHO recommendations the health burden of hereditary anaemias could be significantly reduced. This article summarizes the presentations and discussion made at a joint WHO/TIF (Thalassaemia International Federation) meeting, held in Cyprus in April 1993, and reviews the experience of programmes in several countries for the control of haemoglobinopathies in the world.

Global Health↗

PubMed1995

Modern treatment of haemophilia.

Many rapid advances have been made in the diagnosis and therapy of haemophilia. Nevertheless, the condition still poses problems and challenges (e.g., joint disease, transfusion-transmitted diseases, inhibitors, provision of care in developing countries, and education and cost issues). WHO and the World Federation of Hemophilia held a joint meeting in Geneva, on 21-23 March 1994, to discuss and review current and future approaches to the management of haemophilia and its complications, including prospects for genetic technology and gene therapy in developed and developing countries. The present review article summarizes the discussions and recommendations made by the participants.

Consumer Product Safety↗

PubMed1993

Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis.

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Base Sequence↗

PubMed1993

Haemophilia: strategies for carrier detection and prenatal diagnosis.

In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions.

Base Sequence↗

PubMed1992

New possibilities for population control of cystic fibrosis.

Cystic fibrosis (CF), which is caused exclusively by mutation of a single gene, is inherited in autosomal recessive fashion and is the commonest such disorder in populations of Caucasian origin. Although much progress has been made during the last 50 years in its clinical management, with a corresponding improvement in the mean life expectancy in developed countries from a few months to a few decades, it remains incurable and a complete understanding of its biochemical basis is still being sought. Consequently, attention has been given to the possibility of screening for carriers of the defective gene, who represent up to 5% in some populations, so that they may be given appropriate genetic counselling. Whereas previously carriers were identified only when they became parents of affected children, in recent years carriers who were more distantly related to CF patients have often been identified by means of genetic linkage techniques. A new strategy for the control of CF at the population level is now proposed. It is based on the report of a joint WHO/ICF(M)A (International Cystic Fibrosis (Mucoviscidosis) Association) Task Force on CF which met in November 1990.

Cystic Fibrosis↗