160 - Severe Hemolytic Anemia and Aplastic Crisis with Active COVID Infection in the setting of undiagnosed Hereditary Stomatocytosis

Hereditary stomatocytosis (HSt) is a rare genetic disorder that presents with various degrees of hemolytic anemia and abnormal red blood cell morphologies characterized by alterations in RBC hydration and cell membrane, resulting in increased permeability to cations and inappropriate shrinkage or swelling of erythrocytes. Most patients with non-syndromic forms of HSt show mild anemia, which typically requires folic acid or vitamin B12 supplementation. Occasionally, transfusions are needed for either intermittent hemolysis or transient aplastic crisis, often caused by active viral infections, as seen in our patient.

Objective: To describe the case of an infant with severe hemolytic anemia and aplastic crisis, found to have underlying hereditary stomatocytosis, triggered in the setting of active COVID and Rhinovirus infection.

Design/Methods: A 2-month-old female, born at 37 weeks gestation via C-section with no complications, presented with jaundice, bilious emesis, dark stools, and lethargy, associated with upper respiratory illness for 2 days. She was otherwise healthy with unremarkable medical and family history. At birth, patient was A (+) and direct antibody testing (DAT) negative; mother is O (-). No history of hyperbilirubinemia or blood transfusion.

Results: Labs were significant for severe anemia (Hgb 2.0g/dl, Hct 3.3%) with hyperbilirubinemia, elevated lactate dehydrogenase, decreased haptoglobin, and DAT positive with multiple warm and cold autoantibodies, consistent with severe intravascular and extravascular hemolysis. Single-cell lineage suppression was noted (reticulocyte count 2.4%), consistent with aplastic crisis secondary to active viral infection. A comprehensive hereditary hemolytic anemia genetic panel revealed variations in PIEZO1 gene, which is one of the major genes responsible for hereditary stomatocytosis. Treatment included supportive care with pRBC transfusions, intravenous immunoglobulin (IVIG), and high-dose steroids with resolution of anemia.

Conclusion(s): Literature review revealed several unusual findings of autoimmune hemolytic anemia in adults associated with COVID infection. This case report demonstrates a unique pediatric patient with new-onset severe hemolysis in the setting of active COVID infection and associated hereditary stomatocytosis. Unprovoked hemolytic anemia in infancy hence requires thorough diagnostic evaluation for appropriate therapeutic intervention.