Hereditary Spherocytosis Flashcards
What is hereditary spherocytosis?
RBC MEMBRANE disorder.
Inherited RBC membrane defect causing destabilisation of the cellular membrane.
Causes chronic, premature extravascular haemolytic.
What shape are the erythrocytes?
Sphere shaped making them fragile and easily destroyed when passing through the spleen.
Where are the RBCs broken down?
Extravascularly - by RE system.
They are recognised by the bodies reticuloendothelial system as foreign so are broken down.
What is the most common hereditary membrane disorder?
Hereditary spherocytosis
What type of condition is hereditary spherocytosis?
Autosomal dominant
Strong family history
How does hereditary spherocytosis present?
Jaundice
anaemia
gallstones (increased bilirubin)
Splenomegaly
What is hereditary elloptocytosis?
Similar to hereditary spherocytosis BUT the RBS are ellipse shaped.
Presentation and management are similar.
Autosomal dominant.
Only causes mild anaemia.
How is hereditary spherocytosis diagnosed?
Increased MCHC on full blood count
Increased reticulocytes (due to increased haemolytic)
Family history
Spherocytes seen on blood film
What is management?
Folate supplements
Splenectomy
Cholecystectomy (if gallstones)
Transfusion (at times like growth spurts)
What are complications?
Haemolytic crisus
Aplastic crisis
What is aplastic crisis?
When theres no reticulocyte response from the bone marrow.
Causes increased anaemia, haemolytic and jaundice.
