Hereditary Spherocytosis is a condition that affects the red blood cells. People affected with the disease experience a shortage of red blood cells. There are totally four forms of Hereditary Spherocytosis, each form varies in the signs and symptoms. Common symptoms are:
• Extreme fatigue
• Pain between shoulder blades
• Muscle weakness
• Increased heart rate
Restlessness and irritation in infants is a common symptom of Hereditary Spherocytosis in infants.
HOW IS HEREDITARY SPHEROCYTOSIS DIAGNOSED?
The various Laboratory tests that can help diagnose this condition include:
• Blood smear to show abnormally shaped cells
• Bilirubin level
• Complete blood count to check for anaemia
• Coombs' test
• LDH level
• Osmotic fragility or specialized testing to evaluate for the red blood cell defect
• Reticulocyte count
HOW IS HEREDITARY SPHEROCYTOSIS TREATED?
Though the severity of the disorder will determine the treatment for Hereditary Spherocytosis, doctors prefer to surgically remove the spleen to treat the condition. This procedure, known as splenectomy and by removing the spleen, the problem of the red blood cells dying can be prevented thereby improving their life. In the case of children and other milder forms of the condition, other treatments, including oral medication may be adopted.
DID YOU KNOW?
Hereditary Spherocytosis is caused by a genetic disorder and its symptoms vary from one person to another.