hereditray spherocytosis

Question 1

what is hereditary spherocytosis characterised by

Answer 1

Red blood cells are sphere shaped and easily destroyed by the spleen

Question 1

what causes hereditray spherocytosis

Answer 1

autosomal dominant condition

is a result of a deficiency in the
structural proteins spectrin or ankyrin

Question 2

where is hereditary spherocytosis commonly seen

Answer 2

north europeans

Question 3

pathophysiology of hereditray spherocytosis

Answer 3

1. deficiency in spectrin or ankyrin
2. leads to the blood cells becoming spherical instead usual biconcave shape.
3. When these red blood cells pass through the spleen, they are easily destroyed due to being more fragile - called extravascular haemolysis.
4. Splenomegaly occurs because these cells can get stuck in the spleen and the spleen has to work harder to clear out these abnormal cells.

Question 4

symptoms of hereditary spherocytosis

Answer 4

• RUQ Pain due to
  Gallstones
• Palpitations
• Fatigue
• Dizziness

Question 5

signs of hereditary spherocytosis

Answer 5

• Neonatal or
  intermittent Jaundice
• Pallor
• Splenomegaly
• Anaemia
• Gallstones

Question 6

3 investigations for hereditary spherocytosis

Answer 6

1. FBC + blood film
2. direct coombs test
3. family history

Question 7

what does FBC + blood film for hereditary spherocytosis show

Answer 7

• Normocytic
• Normochromic
• High Reticulocytes
• Spherocytes

Question 8

what is the direct combs result for hereditary spherocytosis

Answer 8

NEGATIVE

Question 9

treatment for hereditary spherocytosis

Answer 9

1. Splenectomy – reduces
   haemolysis (only if the patient is
   > 6 years old)
2. Phototherapy – for neonatal
   jaundice, prevents the risk of
   kernicterus
3. Folate supplements
4. Blood transfusions