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Learning About Sickle Cell Disease

key information

source: The National Human Genome Research Institute

year: 2020

summary/abstract:

Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 Americans have the disease.

In the United States, sickle cell disease is most prevalent among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell trait, which means they are carriers of the disease.

Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.

In people with sickle cell disease, abnormal hemoglobin molecules – hemoglobin S – stick to one another and form long, rod-like structures. These structures cause red blood cells to become stiff, assuming a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue.

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