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Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene .
In patients with sickle cell disease, red blood cells, which are usually disk-shaped, take on a crescent or sickle shape. This change can cause cells to clump together, leading to clots and ...
Sickle cell disease exhibits characteristics of either homozygous hemoglobin S, also known as Hb S, or Hb S paired with another hemoglobin variant. In diagnosing patients with sickle cell, HbA2 is taken into account alongside a complete blood count, family history, and clinical data.
Presentation. The condition is asymptomatic, and is only noticed when screening for other hemoglobin disorders. [citation needed]Sickle cell disease. In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe.
Samuel Charache (January 12, 1930 – January 29, 2019) was an American hematologist and professor at Johns Hopkins University. He led the research team that discovered the first effective treatment for sickle cell disease, a painful and sometimes fatal blood disorder that mainly affects people of African ancestry. [1]
The Star spoke to Kansas City area experts for information regarding the newest treatments for sickle cell disease. Kansas Citians with sickle cell disease may benefit from new FDA-approved treatments
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