Figure 2.
CDA-II is in the differential diagnosis for HS. A 4-year-old African American girl presented with DAT-negative, mild hemolytic anemia (Hgb, 10 g/dL) with a reticulocyte count of 2.4%, a normal ARC of 86 × 103/µL, and mild jaundice. She had a history of prolonged neonatal jaundice treated with phototherapy and no transfusion requirement. Ektacytometry showed a curve that resembled HS, and a blood smear showed spherocytes, marked poikilocytosis, and no polychromasia. Inadequate reticulocytosis and a ferritin of 80 ng/mL, at a generous level for her age with no concurrent inflammation, triggered further evaluation with sequencing of an HHA gene panel that revealed 2 SEC23B mutations, c.40C>T (p.R14W) and c.367-3A>G. Follow-up targeted sequencing of her parents confirmed that these 2 variants were in trans, causing CDA-II. Scale bar = 14 mm.

CDA-II is in the differential diagnosis for HS. A 4-year-old African American girl presented with DAT-negative, mild hemolytic anemia (Hgb, 10 g/dL) with a reticulocyte count of 2.4%, a normal ARC of 86 × 103/µL, and mild jaundice. She had a history of prolonged neonatal jaundice treated with phototherapy and no transfusion requirement. Ektacytometry showed a curve that resembled HS, and a blood smear showed spherocytes, marked poikilocytosis, and no polychromasia. Inadequate reticulocytosis and a ferritin of 80 ng/mL, at a generous level for her age with no concurrent inflammation, triggered further evaluation with sequencing of an HHA gene panel that revealed 2 SEC23B mutations, c.40C>T (p.R14W) and c.367-3A>G. Follow-up targeted sequencing of her parents confirmed that these 2 variants were in trans, causing CDA-II. Scale bar = 14 mm.

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