Approach
Most patients with G6PD deficiency are asymptomatic and no treatment is required. However, those who are deficient must be advised to avoid situations that result in a significant oxidative challenge: for example, certain drugs and chemicals, and some foods such as broad beans.[38]
For symptomatic patients, the 3 broad groups can be considered and managed as outlined below.
Treatment of acute hemolytic events
Acute hemolysis is usually self-limiting as older red cells are destroyed and replaced by reticulocytes (which have a higher level of residual enzyme activity). The precipitating event should be identified and documented so that it may be avoided in future. The essentials of treatment are identical, irrespective of the cause of the hemolysis. For such patients, common treatment strategies may involve the following.
Assessment of the circulatory system: for those who are in a compensated hyperdynamic state, and unlikely to continue to hemlyse, supportive therapy with fluids and close monitoring of blood counts and renal function are required. If the patient is in high output cardiac failure, or has extreme, debilitating symptoms, transfusion of packed red blood cells (PRBCs) is recommended. Absolute hemoglobin threshold for transfusion differs based on age and comorbidities.
Supportive care including folic acid supplementation: folic acid is useful for patients with a high reticulocyte count, as stores are rapidly depleted in the setting of increased red cell production.
Transfusion of PRBCs is restricted to patients with symptomatic anemia. Absolute hemoglobin threshold for transfusion differs based on age and comorbidities. Blood from G6PD-deficient donors should not be used for neonatal transfusions and should certainly not be used when transfusing neonates with G6PD deficiency.[39]
Dialysis may be required to support the patient until renal function recovers. As the renal injury is acute, dialysis is not likely to be required long-term.
Erythropoietin can potentially assist in patients with inadequate endogenous erythropoietin levels, such as patients with severe kidney disease.
Treatment of neonatal jaundice
Neonatal jaundice due to G6PD deficiency is treated with phototherapy in the same way as neonatal jaundice due to other causes. Neonates must be monitored closely to identify those who may develop severe hyperbilirubinemia and, rarely, kernicterus. Breast-fed infants and those who are <38 weeks of gestational age are particularly at risk.[40] In the face of acute ongoing hemolysis or markedly elevated bilirubin levels, exchange transfusion should be considered early on.
Guidelines emphasize the need to measure transcutaneous bilirubin (TcB) or total serum bilirubin (TSB) in all clinically jaundiced infants.[40][41][42]
Decisions about starting phototherapy or exchange transfusion should be guided by gestational age, the hour-specific TSB, and the presence of risk factors for bilirubin neurotoxicity (including family history or genetic ancestry suggestive of G6PD deficiency). Clinical practice guidelines include TSB thresholds for treatment.[42] See Neonatal jaundice
Treatment of chronic nonspherocytic hemolytic anemia due to G6PD deficiency
A few patients have inherited variants with such low enzyme activity that they develop hemolysis in the absence of exogenous precipitating events. In these patients, oxidative challenge will exacerbate hemolysis.
Management may involve supportive care, including folic acid, erythropoietin, and PRBC transfusion, as considered necessary. In addition, extravascular hemolysis may cause splenomegaly and, occasionally, such patients may benefit from splenectomy. This should ordinarily be undertaken only after the age of 5 years and should be preceded byHaemophilus influenzae type b, pneumococcal, and meningococcal vaccinations. CDC: ACIP vaccine recommendations and guidelines Opens in new window
Long-term folic acid supplementation is recommended. Vitamin E and selenium supplementation is probably of no benefit in reducing the rate of hemolysis.
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