Premature red cell destruction, can result in anaemia
Aetiology
Immune
- Autoimmune
- Warm (IgG) - idiopathic (most common), autoimmune disorders (SLE), lymphoproliferative disorders (CLL), drugs (penicillins etc), infections
- Cold (IgM) - idiopathic, infections (EBV, mycoplasma), lymphoproliferative disorders
- Alloimmune
- Haemolytic transfusion reaction
- Immediate (IgM) predominantly intravascular
- Delayed (IgG) predominantly extravascular
- Haemolytic disease of the newborn (Rh D, ABO incompatibility, others e.g. anti-Kell)
Mechanical red cell destruction
- Disseminated intravascular coagulation
- Haemolytic uraemia syndrome e.g. E. coli O157
- TTP
- Leaking heart valve
- Infections e.g. malaria
- Burns related haemolysis
Membrane defects
- Liver disease (Zieve’s syndrome)
- Vitamin E deficiency
- Paroxysmal noctural haemoglobinuria
- Hereditary spherocytosis
Abnormal red cell metabolism
- Failure to cope with oxidant stress (G6PD deficiency)
- Failure to generate ATP
Abnormal haemoglobin
- Sickle cell disease
Pathophysiology
Why are red cells particularly susceptible to damage?
- Biconcave shape
- Limited metabolic reserve, rely exclusively on glucose metabolism for energy (no mitochondria)
- Can’t generate new proteins once in circulation (no nucleus)
Compensated haemolysis
- Increased red cell destruction compensated by increased red cell production - Hb is maintained
Haemolytic anaemia (decompensated hamolysis)
- Increased rate of red cell destruction exceeding bone marrow capacity for red cell production - Hb falls
Consequences of haemolysis
- Reticulocytosis by bone marrow
- Bone marrow erythroid hyperplasia
- Excess red cell breakdown products e.g. billirubin (clinical features differ by aetiology and site of red cell breakdown)
Classification
Extravascular haemolysis
- Red cells are taken up by reticuloendothelial system (predominantly spleen and liver)
- More common
- Hyperplasia at site of destruction (splenomegaly +/- hepatomegaly)
- Release of protoporphyrin - unconjugated bilrubinaemia (jandice, gallstones), urobilinogenuria
- Products are normal products but generated in excess
Intravascular haemolysis
- Red cells destroyed within the circulation spilling their contents
- Haemoglobinaemia (free Hb in circulation)
- Methaemalbuminaemia
- Haemoglobinuria - pink urine, turns black on standing
- Haemosiderinuria
- Products are abnormal - may be life threatening
- Causes:
- ABO incompatible blood transfusion
- G6PD deficiency
- Severe falciparum malaria
- PNH, PCH (vary rare)
Clinical presentation
- Depends on underlying cause and whether the haemolysis is compensated
Investigations
- Confirm haemolytic state - FBC (+ blood film), reticulocyte count, serum unconjugated bilirubin, serum hepatoglobins, urinary urobilinogen
- History and examination - family history, organomegaly
- Blood film
- Membrane damage → spherocytes
- Mechanical damage → red cell fragments
- Oxidative damage due to G6PD deficiency → Heinz bodies
- Others e.g. HbS
- Specialist investigations e.g. direct Coombs’ test (identifies antibody and complement bound to own red cells)
Management
- Depends on underlying cause