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What Is Sickle Cell Disease?

SICKLE CELL ANEMIA : The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.

Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

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“Inherited” means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.

People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.

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Hemoglobin SC disease and hemoglobin Sβ thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD.

SICKLE CELL ANEMIA – CLINICAL MANIFESTATIONS

Symptoms of sickle cell anemia vary and are only somewhat based on the amount of HbS. Symptoms and complications result from chronic hemolysis or thrombosis.

 

  1. Anemia, with hemoglobin values in the range of 7 to 10 g/dL.
  2. Jaundice is characteristic, usually obvious in the sclera.
  3. Bone marrow expands in childhood, sometimes causing enlargement of bones of the face and skull.
  4. Tachycardia, cardiac murmurs, and often cardiomegaly are associated
    with chronic anemia.
  5. Dysrhythmias and heart failure may occur in adults.
  6. Virtually any organ may be affected by thrombosis, but the primary sites involve those areas with slower circulation, such as the spleen, lungs, and central nervous system.
  7. There is severe pain in various parts of the body. All tissues and organs are vulnerable and susceptible to hypoxic damage or ischemic necrosis.
  8. Sickle cell crisis: sickle crisis,
    aplastic crisis, or sequestration crisis.
  9. Acute chest syndrome: fever, cough, tachycardia, and new infiltrates seen
    on the chest xray
  10. Pulmonary hypertension is a common sequela of sickle
    cell disease, and often the cause of death.
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