Sickle cell disease is a genetic disorder primarily affecting individuals of African origin. Untreated, it is a major cause of infant mortality, and it shortens the lifespan and quality of life of afflicted individuals who manage to survive infancy. In developed countries, supportive medical care has substantially reduced morbidity and mortality due to sickle cell disease. However, in developing countries such as Sub Saharan Africa, where the disease incidence is very high (millions), poverty and other medical problems such as malaria and HIV have overshadowed sickle cell disease, and patients do not receive the medical benefits available elsewhere. When malaria and HIV are controlled in Africa, sickle cell disease and its burden of misery will still be there. It is time to attack this underserved need. Cause and Complications of Sickle Cell Disease. Malaria has been a scourge of humankind for millennia. Early in human history in equatorial Africa, where malaria is endemic, a mutation occurred in a gene responsible for production of a red pigment called "hemoglobin." Large amounts of hemoglobin fill millions of our red blood cells and carry life-sustaining oxygen from our lungs to the rest of the body. We inherit hemoglobin genes from both of our parents, and both genes produce normal hemoglobin, known as "hemoglobin A." Our African ancestors who inherited the mutant hemoglobin gene, called "hemoglobin S," from one parent, produced red blood cells containing a mixture of hemoglobin S and hemoglobin A. This combination of hemoglobins A and S protected affected individuals from death by malaria. As a result, they were more likely to survive and reproduce, resulting in an increased prevalence of the hemoglobin S gene. The cost of this protection from death by malaria, however, increased the probability that two individuals carrying the hemoglobin S gene would mate and produce offspring having no hemoglobin A, only hemoglobin S. These children have sickle cell disease. Episodically, the red blood cells of sickle cell disease patients convert from flexible discs that accommodate blood circulation into rigid elongated shapes resembling scythes (a process known as "sickling"). White blood cells of the immune system are fooled into thinking that these "sickled" red blood cells are foreign germs and eat them. Hence the patients have relatively few red blood cells and are anemic, resulting in fatigue and growth retardation. The fooled immune system is diverted from its normal task of ridding the body of germs, and sickle cell patients therefore suffer from frequent and often fatal infections. Periodically, sickled red blood cells, because of their rigidity and abnormal shape, form logjams in the circulation, depriving the tissues downstream of the jam from oxygen. This event results in severe pain, tissue destruction and, worst of all, strokes and brain damage. A complication common in children is a massive accumulation of sickled red blood cells in the spleen, which enlarges it and causes it to trap large amounts of blood. This problem, known as "splenic sequestration," has a high mortality rate. What can be done about sickle cell disease? Medical management can reduce the burden of misery and premature death due to sickle cell disease. In the developed world, we treat patients with vitamins that ameliorate the anemia, aggressive hydration, which prevents sickling, antibiotics and vaccines for infection, analgesics for pain and, most importantly, education encouraging patients to seek medical attention early when complications arise. Of particular benefit is a drug called hydroxyurea, which inhibits sickling and has had a major positive impact. As a result of these measures, the life span of affected patients has increased considerably. The situation is very different in developing countries with a high prevalence of sickle cell disease and where most of these modalities have not been available. Hydroxyurea has not been used extensively outside of developed countries. Zambia. 
Zambia is a Sub-Saharan African country with typical problems of poverty, malnutrition and an HIV epidemic. But it is peaceful and politically stable and is close to where the hemoglobin S gene first arose. Therefore, it has a large population of sickle cell patients (estimably half a million). A clinic at the University Teaching Hospital (UTH) in the capitol city of Lusaka follows a thousand sickle cell disease patients.
Links Concerning Sickle Cell Disease. WHO Secretariat Report on Sickle Cell Anemia WHO Fourth Report of Committee A Resolution on Sickle Cell Disease WHO fact sheet on sickle-cell disease and other hemoglobin disorders Medline (National Library of Medicine) link on Sickle Cell Disease Note: This link has educational materials National Heart Lung & Blood Institute Sickle Cell | 
