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Key Features

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  • African, Mediterranean, or Asian ancestry

  • Neonatal hyperbilirubinemia

  • Sporadic hemolysis associated with infection or with ingestion of oxidant drugs or fava beans

  • X-linked inheritance

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Clinical Findings

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  • Infants may have significant hyperbilirubinemia

  • Older children are asymptomatic and appear normal between episodes of hemolysis

  • Hemolytic episodes are often triggered by infection or by the ingestion of oxidant drugs such as antimalarial compounds and sulfonamide antibiotics

  • Episodes of hemolysis are associated with

    • Pallor

    • Jaundice

    • Hemoglobinuria

    • Cardiovascular compromise (sometimes)

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Diagnosis

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  • Hemoglobin concentration, reticulocyte count, and peripheral blood smear are usually normal in the absence of oxidant stress

  • Episodes of hemolysis are associated with a variable fall in hemoglobin

  • "Bite" cells or blister cells may be seen, along with a few spherocytes

  • Hemoglobinuria is common

  • Reticulocyte count increases within a few days

  • Heinz bodies may be demonstrated with appropriate stains

  • Diagnosis is confirmed by finding reduced levels of G6PD in erythrocytes

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Treatment

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  • Drugs known to be associated with hemolysis should be avoided

  • For some patients of Mediterranean, Middle Eastern, or Asian ancestry, the consumption of fava beans must also be avoided

  • Infections should be treated promptly and antibiotics given when appropriate

  • Most episodes of hemolysis are self-limiting

  • Red cell transfusions may be lifesaving when signs and symptoms indicate cardiovascular compromise

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