The Management of Sickle Disease

The Management of Sickle Disease

What is Sickle Disease

Sickle cell anemia is the most common monogenic hereditary disease around the world. The cause of the disease is a point mutation in the beta globin from hemoglobin which causes an abnormal hemoglobin called hemoglobin S (HbS) instead of the normal hemoglobin called hemoglobin A (HbA) (Vichinsky et al., 1997, p. 1787-1792). This mutation leads to the replacement of a glutamic acid for valine in position 6 of the beta chain with consequent physiochemical changes in the hemoglobin molecule. In certain situations, these molecules can undergo polymerization with the sickling red blood cells causing shortening of the average life span of red blood cells, episodes of pain and organ damage.

Identification and Symptoms of Sickle Disease

In general, parents are asymptomatic carriers of a single affected gene (Heterozygous) producing HbA and HbS (AS), each transmitting the altered gene to the child. The child therefore receives the abnormal gene in double doses (Homozygous SS). The name "sickle cell anemia" is reserved for the form of the disease that occurs in these homozygous zones. Furthermore, the gene can be combined with HbS hereditary abnormalities and with other hemoglobins such as hemoglobin C (HbC), hemoglobin A (HBD) and beta-thalassemia (Vichinsky et al., 1997, p. 1787-1792). Among all these symptomatic forms of the hemoglobin S gene, homozygous is are known as sickle cell disease. Despite the particularities that distinguish hemoglobin among themselves and the varying degrees of severity, all these diseases have a spectrum of clinical and epidemiological properties and are hematologically overlapped. The disease originated in Africa and was brought to the Americas by enslaved immigrant. The disease distributes heterogeneously where the black population is higher (Koshy et al., 1989, p. 1403-1408). Beyond Africa and the Americas, the disease has become common throughout Europe and in large parts of Asia.

In the Americas, the disease is prevalent among blacks and browns, also occurring among whites although with a much lesser frequency. The prevalence of average heterozygotes (carriers) is 2%, which rises to about 6-10% among blacks. Estimates based on prevalence estimate the existence of over 2 million carriers of the gene for HbS in Aemrica with more than 8,000 affected with homozygous (HbSS). It is estimated that nearly 700 - 1,000 new cases of sickle cell disease take birth in the country on an annual basis (Koshy et al., 1989, p. 1403-1408). Therefore, the disease is a public health problem in the Americas. One characteristic of the disease is its clinical variability: while some patients have a picture of great gravity and are subject to the numerous complications and frequent hospitalizations, others have more benign symptoms or, in some cases, almost no symptoms at all. Both factors are hereditary and contribute to this clinical variability (Koshy et al., 1989, p. 1403-1408). In cases where the disease is acquired rather than inherited, most important factors for the transfer are socio-economic in nature with variations in the quality of food, infection prevention and medical assistance topping the ...