Thursday, May 17, 2018

what types of genetic abnormabilities are associated with sickle cell anemia

Sickle cell anemia is an autosomal recessive condition carried on chromosome 11. This means that in order to inherit the disease, a person needs to inherit both of the recessive genes for the disorder. Two parents that do not have the disease but carry the trait have a 25% chance of producing offspring with the sickle cell anemia disorder. Phenotypically, a person with the disorder has atypical hemoglobin molecules that cause red blood cells to become distorted into a sickle/crescent shape. The disease can cause periodic episodes of pain and is also characterized by a lower number of red blood cells. Because there are fewer red blood cells, and/or because they break down too early, the disease can lead to anemia. Other signs and symptoms are fatigue, shortness of breath, yellowing of the eyes and skin, high blood pressure, and possible organ damage.
https://ghr.nlm.nih.gov/art/large/autorecessive.jpeg

https://ghr.nlm.nih.gov/condition/sickle-cell-disease

https://www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease

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