Sickle Cell Anemia

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Sickle Cell Anemia
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45%

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93%

36%

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Specialty scores for Sickle Cell Anemia

Overview

Source: In partnership with Genetic and Rare Diseases Information Center, funded by the National Center for Advancing Translational Sciences, and the National Human Genome Research Institute https://rarediseases.info.nih.gov/gard.

Terms of Use

Sickle cell anemia

overview Question

What is sickle cell anemia?

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern. Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions.

Date Modified: 2015-12-14T00:00:00

basic Questions

How is sickle cell anemia inherited?

Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In regards to sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.

Date Modified: 2015-12-14T00:00:00

Presentation(s)

Autosomal recessive inheritance

Cardiomegaly

Cholelithiasis

Hematuria

Hemolytic anemia

Hepatomegaly

Increased red cell sickling tendency

Jaundice

Priapism

Retinopathy

Splenomegaly

medical Products

Hydroxyurea

Trade Name: Droxia®

Indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in adult patients with sickle cell anemia with recurrent moderate to severe painful crises (generally at least 3 during the preceding 12 months).