By vgreene, 17 June, 2019

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(BMJ)—A 41-yo woman presented w/ a 3-day hx of fever, cough, yellow eyes, and left upper quadrant pain. Three similar episodes in the past 5y each resolved w/ abx. Exam: pallor, scleral icterus. Spleen: tender, enlarged. Labs: Hgb decreased; WBC elevated; platelets WNL; absolute reticulocyte count elevated; indirect bilirubin elevated; liver enzymes WNL; direct antiglobulin negative. What is the dx?
Cholecystitis
Malaria
Autoimmune hemolytic anemia
Hereditary spherocytosis
Gilbert syndrome
You are correct. Peripheral blood smear, a negative direct antiglobulin (DAT), and splenomegaly were consistent w/ hereditary spherocytosis. Anemia and jaundice suggested an associated hemolytic crisis, which may have been triggered by an infxn. The condition is an inherited deficiency or defect in red blood cell membrane proteins, causing the cells to lose their normal biconcave shape and transform into spherocytes. It’s diagnosed by the presence of spherocytes on blood smear and negative DAT, along w/ a positive family hx. Dx is usually confirmed by flow cytometric analysis (EMA binding test). Moderate to severe cases require tx w/ folic acid and splenectomy.

BMJ 2019;364:k5168