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reference materials

Sickle Cell Anemia

key information

source: OMIM

year: 1999

authors: Ada Hamosh

summary/abstract:

Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans(review by Rees et al., 2010).

Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease.

Scriver and Waugh (1930) reported detailed studies of a 7-year old child with sickle cell anemia. Her main complaints were cough, night sweats, vague pains in the legs and joints, occasional abdominal pain, poor appetite, and increasing fatigue. In a series of clever experiments that involved taking venous blood from the arm under different circumstances, the authors showed a correlation between oxygen tension and sickling of the red blood cells in vivo. Increased sickling was observed when oxygen pressure fell below 40 to 45 mm Hg. Scriver and Waugh (1930) concluded that large aggregations of sickle cells seen in sinuses, vessels, and organs of sickle cell patients at autopsy reflected lowered oxygen tension resulting from death.

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