Topic > Genetic Disorders: Spherocytosis and Hereditary Anemia

This review covers the studies of several scientists who have completed research on the genetic disease, spherocytosis. Based on several articles in the literature, it has been learned that spherocytosis is a hereditary anemia caused by dysfunction of the cellular cytoskeleton. These articles provide information about hereditary spherocytosis, which includes the disorder at the molecular level and how the patient is diagnosed using laboratory tests. Patients may be found to be affected at a certain level ranging from mild to severe. They are then prescribed corrective medical care relevant to their level. Research has shown that one form of response is to undergo a splenectomy which can alleviate a patient's ailment, but it has been found that it does not correct the lifespan of erythrocytes unlike what was hypothesized. Hereditary spherocytosis: a review of the genetic disease Hereditary spherocytosis is an anemic disorder that affects the blood and causes the production of erythrocytes as spheres while normal erythrocytes are shaped like concave disks. Spherocytosis has a genetic basis, which means it can be passed on from one of the parents who already understand the disease. This disorder can be found in all racial classifications, but is more prevalent among Caucasians (Oliveira et.al 2012). Spherocytosis in Northern Europe and North America has an incidence of 1 in 5,000 births and is usually the cause of hereditary chronic hemolysis (Huq et al., 2010 and Bolton-Maggs et al., 2004). In the literature reviewed, spherocytosis has been studied and discussed regarding various aspects of this disorder, including erythrocyte function and what happens after diagnosis. In the journal, “Guidelines for diagnosis and management...... half of the document.. ....show no consistency in the degree of expression of spherocytosis. The average lifespan of red blood cells was approximately ninety-six days, while the normal lifespan is approximately one hundred and twenty-three days (Chapman 1968). Lifespan among patients ranged from seventy-six to one hundred and eighteen days. From these results it is deduced that splenectomy does not repair the lifespan of red blood cells. Hereditary spherocytosis is often identified in the patient's childhood or early adulthood, although spherocytosis can be diagnosed at any age as long as it is complete. This molecular disorder impacts quality of life regarding aspects of treatment, finances, stress, and recovery. As discoveries are made in this area of ​​research, people will have greater knowledge about spherocytosis and advances in treating this disorder, including more options.