Genetic Disorders: Spherocytosis an Inherited Anemia

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This review is on the studies of several scientists whom completed research on the genetic disorder, spherocytosis. Based on several articles in the literature, it was learned that spherocytosis is an inherited anemia caused by the dysfunction of the cell’s cytoskeleton. These articles provide information of hereditary spherocytosis comprising of the disorder on the molecular level and how the patient’s diagnosis is concluded using laboratory testing. Patients can be found to be affected on a certain level ranging from mild to severe. They are then prescribed remedial medical attention pertaining to their level. The research showed that a form of response is to undergo a splenectomy which can ease a patient’s ailment, but has been found to not correct the life span of erythrocytes unlike speculation that it did. Hereditary Spherocytosis: A Review on the Genetic Disorder Hereditary spherocytosis is an anemic disorder affecting the blood that causes erythrocytes to be produced as spheres while normal erythrocytes are shaped as concave disks. Spherocytosis is genetically based, meaning that it can be passed down from either parent who already encompasses the disorder. This disorder can be found in all racial classifications but is more prevalent in Caucasians (Oliveira 2012). Spherocytosis in Northern Europe and North America have a 1 in 5000 births in reported incidences and is usually the cause of inherited chronic hemolysis (Huq et al., 2010 and Bolton-Maggs et al., 2004). In the reviewed literature, spherocytosis has been researched and discussed regarding various aspects of this disorder, including the functionality of erythrocytes and what occurs after diagnosis. In the journal, “Guidelines for diagnosis and manag... ... middle of paper ... not show any consistency of the degree of spherocytosis expression. The red blood cell life span was averaged at about ninety-six days when normal life span is about one hundred twenty-three days (Chapman 1968). The range of life span between the patients ranged from seventy-six to one hundred eighteen days. From these results it is inferred that splenectomy does not repair red blood cell life span. Hereditary spherocytosis is often identified in a patient’s childhood or early adult life, although, spherocytosis can be diagnosed at any age conditional to the entirety. This molecular disorder impacts their quality of life regarding aspects of treatment, finances, stress and recovery. As discoveries are made in this area of research, individuals will have a greater knowledge of spherocytosis and advancement in the treatment of this disorder including more options.

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