SICKLE CELL ANEMIA
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Occurs due to single genetic mutation with single amino acid substitution in the Hb molecule
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Common in African, Indian, Middle Eastern children
CLINICAL FEATURES
Sickle cell trait
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Causes disability in severe hypoxia
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Children have chronic anemia (Hb- 8- 10 g/dL)
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There is predisposition to infection- Staphylococcus, Pneumococcus and Haemophilus
Sickle cell crisis
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Generally occurs following infection, cold, dehydration or hypoxia
This causes
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Thrombosis, hemolysis, marrow aplasia or acute splenic/ Liver sequestration
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Any acute medical or surgical emergency may be mimicked
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Can cause severe aching bony pain and low-grade fever, Cerebral sickling can occur with psychosis, fits, strokes or focal deficits.
Acute chest syndrome
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Leading cause of death in sickle cell anaemia
Presents as
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Chest pain, hypoxia, pulmonary infiltrates, cough, tachypnea, wheezing
Acute splenic sequestration
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Occurs due to sudden trapping of large numbers of RBS in the spleen causing severe anaemia
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Presents as spleen enlargement, hypovolemia and thrombocytopenia
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There is 30% chance if sequestration happening in children by 5 years of age
Osteomyelitis and septic arthritis
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Presents with fever, soft tissue swelling.
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Salmonella is a common organism
INVESTIGATIONS
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Sickling test
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Hb Electrophoresis
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Full blood count/ Peripheral smear – shows anaemia
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Infections markers- CRP/ Cultures
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Arrange CT head if neurological symptoms
MANAGEMENT
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Supportive treatment- Oxygen, rest
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Opioids( intravenous) are required to control pain
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Rehydration with Iv fluids
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Transfusion may be required if severe anaemia or CNS or Lung complications
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Empirical antibiotic therapy