Hereditary Spherocytosis Flashcards
What is hereditary spherocytosis?
A condition where the red blood cells are sphere shaped, rather than the biconcave disc shape
How does the red blood cells being spherical rather than biconcave affect them?
It makes them fragile and easily destroyed when passing through the spleen.
What is hereditary spherocytosis the most common type of?
Hereditary haemolytic anaemia
What type of inheritance does hereditary spherocytosis have?
Autosomal dominant
How does hereditary spherocytosis present?
- Failure to thrive
- Jaundice
- Anaemia
- Gallstones
- Splenomegaly
- Aplastic crisis
What might an aplastic crisis be precipitated by?
Parvovirus
What might be elevated in hereditary spherocytosis?
MCHC (Mean Corpuscle Haemoglobin Concentration)
Raised Reticulocytes
What id MCHC a measure of?
Measurement of how much haemoglobin is inside one red blood cell
What are episodes of haemolytic crisis triggered by?
Infection
How does a haemolytic crisis present?
symptoms are more significant:
Haemolysis
Anaemia
Jaundice
How is hereditary spherocytosis diagnosed?
- Spherocytes on the blood film.
- Raised mean corpuscular haemoglobin concentration (MCHC)
- Raised Reticulocytes
What is the diagnostic test for hereditary spherocytosis?
EMA binding
What is important to ask about when diagnosing hereditary spherocytosis?
Family history
What is the long term treatment of hereditary spherocytosis?
- Folate supplementation
* Splenectomy
What is the acute treatment of hereditary spherocytosis?
- Supportive treatment
* Transfusions may be required during acute crises.
What is a haemolytic crisis?
Large numbers of red blood cells are destroyed over a short time
What is an aplastic crisis?
Rapid fall in haemoglobin levels associated with few or no reticulocytes
Resulting in Reticocytopenia
This indicates a failure of the bone marrow to respond to increased cell turnover
What is a typical history for someone with hereditary spherocytosis?
- Neonatal jaundice
- Chronic symptoms although haemolytic crises may be precipitated by infection
- Gallstones
- Splenomegaly is common
What results would suggest an aplastic crisis?
Severely low haemoglobin (anaemia)
Decreased reticulocyte count
What are the biggest signs to look for in someone with hereditary spherocytosis?
Splenomegaly- pain in right upper quadrant
family history (of hereditary spherocytosis or splenectomy)
severely low haemoglobin
