Sickle Cell Anemia is a very common blood disorder which is caused by a mutation in the Hemoglobin- Beta gene that can be found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Normal Hemoglobin are smooth and round causing them to easily glide through blood vessels. Sickle cell disease hemoglobin stick together which causes them to pile up forming blockages, damaging vital organs and tissues.
It took many discoveries to figure everything out and it started In 1910 when Herrick found a peculiar sickle shaped anemia. Then in 1920 Hahn and Gillespie found the role of deoxygenation. Twenty-nine years later in 1949, James Neel discovered and demonstrated the hereditary nature of the disease. In 1951 , Linus Pauling and Harvey Itano associated the sickle shaped anemia with hemoglobin. In 1956, Vernon Ingram discovered the actual amino acid substitution.
Approximately 100,000 Americans and millions worldwide suffer from this disease. Studies show that it is most prevalent among African Americans and every one in twelve are diagnosed with sickle cell anemia.
symptoms of sickle cell anemia will vary depending on the severity of it. In infants there is usually a discoloring of the skin, pain episodes which will last several days, fatigue, and fussiness. People with mild to moderate anemia will suffer from pains throughout the body,acute pain episodes and chronic pain. People with severe anemia will suffer shortness of breath, dizziness, and always being tired. Since sickle cell damages organs, the spleen can become damaged causing them to be more prone to infections that include salmonella and pneumococcus.
This disease can be treated with antibiotics, blood transfusions and pain management. A newer drug treatment used as an anti tumor drug called hydroxyurea stimulates the production of beta hemoglobin.
The life expectancy for people with sickle cell anemia has increased greatly over the years. The lifespan used to be around 14 years. Now the lifespan is up to 50+ years.
Current research is discovering how bone marrow transplant may actually cure sickle cell anemia. Although, they are still trying to understand the implications of sickle cell trait.
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