What is Sickle Cell Disease?

 
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What Causes Sickle Cell Disease?

Sickle cell is an inherited disease caused by a defect in a gene.

  • A person will be born with sickle cell disease only if two genes are inherited—one from the mother and one from the father.

  • A person who inherits just one gene is healthy and said to be a "carrier" of the disease. A carrier has an increased chance of having a child with sickle cell disease if he or she has a child with another carrier.

For parents who are each carriers of a sickle cell gene, there is a 1 in 4, or a 25 % chance of having a child with sickle cell disease.

What Are The Symptoms of Sickle Cell Disease?

People may experience:

  • Pain areas: in the joints

  • Pain types: can be sudden in the chest

  • Whole body: dizziness, fatigue, low oxygen in the body, or malaise

  • Urinary: inability to make concentrated or dilute urine or blood in urine

  • Also common: abnormal breakdown of red blood cells, delayed development, inflamed fingers or toes, pallor, shortness of breath, or yellow skin and eyes

How Is Sickle Cell Disease Diagnosed?

Along with a complete medical history and physical exam, you may have blood and other tests.

Many states routinely screen newborns for sickle cell so that treatment can begin as soon as possible. Early diagnosis and treatment can reduce the risk of complications.

Hemoglobin electrophoresis is a blood test that can determine if a person is a carrier of sickle cell, or has any of the diseases associated with the sickle cell gene.

 
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