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HEREDITARY HAEMOLYTIC ANAEMIAS, G6PD DEFICIENCY - Coggle Diagram

- - - - Red cell enzyme defects
        (Enzymopathies)
        
        Defect in the
        hexose monophosphate shunt :
        
        Defects in the Embden-Meyerhof
        (glycolytic) pathway:
        
        Pyruvate kinase (PK) deficiency
        
        glucose-6-phosphate dehydrogenase (G6PD) deficiency
        
        diagram
      - Disorders of Haemoglobin
        (Haemoglobinopathies)
        
        Struturally abnormal haemoglobin :
        
        sickle syndrome
        
        Reduced globin chain synthesis
        
        Thalasaemias
- - - - affecting males
      - while females are carriers
        and asymptomatic
      - Several variants
        
        Most common and clinically significant
        
        A-(negative) type
        
        Patients develop haemolytic episodes on exposure to oxidant stress
        
        eg:
        
        viral, bacterial infections,
        
        drugs (antimalarials, sulfonamides, nitrofurantoin, aspirin, vitamin K)
        
        metabolic acidosis on ingestion of fava beans (favism), henna, mothballs
  - - - Result in oxidation and precipitation of haemoglobin within red cells forming
        Heinz bodies
        
        cell slide
  - - - develops in males,
        
        within hours of exposure to oxidant stress.
        
        Haemolysis is self limiting.
        
        Affects older red cells.
        
        Darkening urine from haemoglobinuria,
        
        jaundince in more severe cases
      - Chronic haemolytic anaemia
        
        chronic persistent haemolysis
        throughout life
        
        Neonatal jaundice
        
        neonates continue to have unconjugated
        hyperbilirubinaemia
        
        and can develop kernicterus
    - - During acute haemolysis
        
        rapid fall in haematocrit by 25%- 30%.
        
        Formation of Heinz bodies on peripheral blood smear.
        
        Heinz bodies removed within two to three days by spleen
        
        leading to
        formation of ‘bite cells’
        and fragmented Red cells
        
        Between crisis:
        
        generally no anaemia.
        
        Red cell survival shortened
      - TREATMENT
        
        Treatment is targeted towards prevention of haemolytic episode
        
        Blood transfusions rarely indicated