Differential Diagnosis for the 6-day-old Girl with Persistent Jaundice
- Single most likely diagnosis:
- Hemolytic disease of the newborn (HDN) due to ABO incompatibility: Although the direct Coombs test is negative, the patient's clinical presentation (persistent jaundice, anemia, and splenomegaly) and laboratory results (elevated reticulocyte count and decreased hemoglobin) suggest hemolysis. The mother's O+ blood type and the infant's A+ blood type increase the risk of ABO incompatibility, which can cause hemolysis even with a negative direct Coombs test.
- Other Likely diagnoses:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency: This X-linked recessive disorder can cause hemolytic anemia in response to oxidative stress, which may be triggered by phototherapy or other factors. The patient's anemia, jaundice, and reticulocytosis are consistent with this diagnosis.
- Hereditary spherocytosis: This defect of the red blood cell membrane can cause hemolytic anemia, jaundice, and splenomegaly, which are all present in this patient.
- Do Not Miss diagnoses:
- Infection (e.g., sepsis or urinary tract infection): Although the patient's vital signs are normal, infection can cause hemolysis, jaundice, and anemia. It is essential to consider this diagnosis to avoid missing a potentially life-threatening condition.
- Congenital infections (e.g., TORCH infections): These infections can cause hemolytic anemia, jaundice, and other systemic symptoms.
- Rare diagnoses:
- Pyruvate kinase deficiency: This rare enzyme deficiency can cause hemolytic anemia, jaundice, and splenomegaly.
- Other rare hemoglobinopathies or red blood cell disorders: These conditions, such as alpha-thalassemia or hereditary elliptocytosis, can cause hemolytic anemia and jaundice, but are less likely given the patient's clinical presentation and laboratory results.