Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. People with two copies of the sickle cell gene have the disease. People who carry only one copy of the sickle cell gene do not have the disease, but may pass the gene on to their children. The mutations that cause sickle cell anemia have been extensively studied and demonstrate how the effects of mutations can be traced from the DNA level up to the level of the whole organism. Consider someone carrying only one copy of the gene. She does not have the disease, but the gene that she carries still affects her, her cells, and her proteins:.
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A CRISPR Approach to Treating Sickle Cell
Gene Therapy - Sickle Cell Disease News
A year-old woman with a history of sickle cell disease SCD presents to the clinic for follow-up after a hospitalization for a vaso-occlusive pain crisis complicated by influenza A. She has a history of an acute ischemic stroke at age 5 years and has received monthly, simple red cell transfusions since the stroke. Her last transfusion was approximately four months prior. The incidence of primary stroke in children with SCD is 0. Cooperative Study of Sickle Cell Disease. Once stroke has occurred, the incidence of recurrent secondary stroke ranges from 47 to 93 percent in patients not started on regular transfusions. These high-risk children had an increased blood flow in the internal carotid or middle cerebral artery by TCD.
A 19-year-old man with sickle cell disease presenting with spinal infarction: a case report
A three years old male child, native of Jharkhand, Central India presented with mild pallor, icterus, and history of on and off abdominal and joint pains. On examination the child had mild splenomegaly. He had history of two prior hospital admissions.
Metrics details. Vasculopathy of the large vessels commonly occurs in sickle cell disease, and as a result cerebral infarction is a well characterized complication of this condition. However, spinal infarction appears to be rare. Spinal infarct is infrequent in the non-sickle cell population as well, and accounts for only about 1 percent of all central nervous system infarcts.