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sickle cell disease
sickle cell disease is a group of inherited red blood cell disorders. it is characterized by the presence of sickle-shaped red blood cells that are less flexible and sticky, causing them to get trapped in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
the most common type is sickle cell anemia. symptoms include anemia, episodes of pain, frequent infections, delayed growth, and vision problems. painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. these episodes can last from a few hours to several days.
sickle cell disease is caused by a mutation in the gene that tells the body to make hemoglobin, the iron-rich compound that gives blood its red colour and carries oxygen from the lungs to the rest of the body.
diagnosis involves a blood test to check for hemoglobin s — the defective form of hemoglobin that underlies sickle cell anemia. in most cases, the test is done as part of routine newborn screening.
treatment includes medications, blood transfusions, and rarely a bone-marrow transplant. managing the disease focuses on relieving pain and preventing infections, complications, and organ damage.
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