Herediatry Spherocytosis (Paediatric Hemato Oncology)

Acute
Benign Hematological Disorders

What is Herediatry spherocytosis?

Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.

There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.

Hemolytic anemia symptoms include jaundice and enlarged spleens. Other symptoms are:

  • Shortness of breath (dyspnea): This happens when you don’t have enough red blood cells carrying oxygen throughout your body.
  • Fatigue: Fatigue is a sensation of being so tired that it affects your daily life and your ability to do your daily activities.
  • Fast heartbeat (tachycardia): This condition means your heart is beating faster than it should. When your heart beats too fast, it doesn’t have enough time between beats to fill up with blood, and your heart can’t supply your body with the oxygen it needs.
  • Low blood pressure (hypotension): Low blood pressure can be a symptom or a condition. It happens when your blood pressure is much lower than expected.

How is it diagnosed?

How is it diagnosed?

Healthcare providers diagnose the condition by evaluating your symptoms, asking questions about your medical history and biological family medical history, and by doing several tests. This test may include:

  • Complete blood count (CBC): This test gives healthcare providers information about your blood and overall health.
  • Peripheral blood smear: Healthcare providers do this test to examine your blood cells’ size and shape.
  • Reticulocyte count: Healthcare providers measure reticulocytes to find out if your bone marrow is producing enough healthy red blood cells.
  • Direct antiglobulin (Coombs) test: This test checks for autoimmune hemolytic anemia.
  • Bilirubin level: This is a blood test to check for high bilirubin levels.
  • Red cell osmotic fragility: This test detects whether red blood cells are likely to break down.
  • Plasma membrane electrophoresis: This is a technique that uses gel or fluid on an electric field to identify DNA, RNA or proteins. Healthcare providers use this test to identify which red cell membrane protein has mutated or changed.

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