Sickle cell anaemia and its related disorders is the most common severe monogenic disease with an estimated 300-400,000 births per year, mainly in low income countries. Even in the richer countries mortality data are extremely limited although it is clear that in the low income countries many infants die with this condition due to infection. The reasons for the high frequency of the sickle cell disorders include heterozygote advantage against malaria, a high level of consanguineous marriage in some of the high frequency populations, and, increasingly important, the epidemiological transition whereby improvements in nutrition, public health and medical care are allowing infants and young children with this condition to survive for longer. The latter mechanism is likely to cause a major increase in the number of patients with sickle cell anaemia in the future and it is absolutely vital therefore that the governments of high frequency countries are made aware of this fact and develop the necessary national programmes for its prevention and management. In 2013, and for the first time, the haemoglobin disorders have been included in the Global Burden of Disease estimates which should help to bring their importance to the attention of international health agencies and governments of the high frequency countries.
References:
Weatherall, D.J. (2010) The inherited diseases of hemoglobin are an emerging global health burden. Blood, 115, 4331-4336.
Williams, T.N., Uyoga, S., Macharia, A., Ndila, C., McAuley, C.F., Opi, D.H., Mwarumba, S., Makani, J., Komba, A., Ndiritu, M.N., Sharif, S.K., Marsh, K., Berkley, J.A. & Scott, J.A. (2009) Bacteraemia in Kenyan children with sickle-cell anaemia: a retrospective cohort and case-control study. Lancet, 374, 1364-1370.