Genetic disorders in a paediatric hospital in Cambodia

Cambodia is an extremely underdeveloped country in Southeast Asia with a childhood mortality rate of 105/1000 live births. Angkor Hospital for Children is a paediatric teaching hospital in Siem Reap, northwest Cambodia, which serves as the provincial paediatric department but also sees children from provinces throughout northern Cambodia, and with training provided for health workers from all parts of the country. The impact of genetic disease on this paediatric population is discussed, addressing the areas of haematology (including thalassaemia and other haemoglobinopathies, glucose-6-phosphate deficiency and bleeding disorders), multifactorial disorders (cleft palate, congenital heart disease and neural tube defects), and uncommon genetic disorders and chromosomal syndromes. In the future, as low-income countries develop and their burden of infectious disease begins to subside, the contribution of these disorders to paediatric morbidity and mortality will become increasingly apparent. This transition needs to be considered in the allocation of health resources and in the structuring of undergraduate and postgraduate medical education.