Coursename
Sickle-cell anemia is a genetic blood disorder, which affects the red blood cells. It was first described in the medical literature in 1846. In 1910, Ernest Irons became first to write about the pathologically altered red blood cells of the patient with sickle-cell anemia (Serjeant 425-429). It is caused by the mutation of the gene encoding the synthesis of the hemoglobin. As a result, the hemoglobin of the affected people is defective (hemoglobin S). Glutamic acid in it is substituted with valine in the sixth position of the β-chain. This change greatly reduces the solubility of hemoglobin in hypoxic conditions. As a result of multiple lesions of the vascular system, sickle cell disease leads to various complications of a large number of body systems. They often involve an interruption of the blood supply to certain organs or areas of the body. For example, people with this disorder often suffer from the leg ulcers. More dangerous complications are a sickle-cell crisis, acute chest syndrome, hemolytic crisis and aplastic crisis.
Treatment of the sickle-cell anemia includes pharmacotherapy with the hydroxyurea. It is the first drug for the pharmacotherapy of the sickle-cell anemia. Blood transfusions and bone marrow transplantation are also helpful in the treatment of this condition.While bone marrow transplantation is the only available etiologic treatment of this disorder, it is hard to conduct this procedure because of difficulties in finding donors to fit the patient by major histocompatibility complex antigens. Preventive measures of sickle-cell anemia include genetic consultation and genetic screening, which can identify the couples who carry the mutant gene and predict the birth of sick children. Promising research towards overcoming this disease have been held over the last years. The most advanced of them is probably the gene therapy, which has already shown its effectiveness in the experiments on the mice (Pawliuk 2368-2371).
References:
Pawliuk, R. "Correction Of Sickle Cell Disease In Transgenic Mouse Models By Gene Therapy". Science 294.5550 (2001): 2368-2371. Web. 16 May 2016.
Serjeant, Graham R. "One Hundred Years Of Sickle Cell Disease". British Journal of Haematology 151.5 (2010): 425-429. Web. 16 May 2016.
