Case history
Case history #1
A 10 year old boy presents to the ER with fatigue, feeling very ill, and looking very pale. On examination, he has an enlarged spleen. Initial blood tests show a severe anemia with spherocytes on the peripheral blood smear, and a slightly reduced platelet count. His identical twin brother is examined and found to have splenomegaly with typical features of HS on the blood count. Over the next 2 weeks the presenting child recovers, and serology is positive for parvovirus. When well he is asymptomatic and has a hemoglobin of 10 to 11 g/dL.
Case history #2
A 45-year-old man without symptoms has a routine complete blood count done prior to donating blood for the first time. He is informed that the hemoglobin concentration is slightly reduced, with an increase in mean corpuscular hemoglobin concentration. Spherocytes are seen on the smear, and the serum bilirubin (mainly unconjugated) is slightly elevated. On exam, he is noted to have an enlarged spleen, which is just palpable.
Other presentations
HS can present at any age, often as an incidental finding when a blood test is performed for another reason. It may be diagnosed in pregnancy when the low hemoglobin level is exacerbated. HS may cause neonatal jaundice, in some cases severe enough to warrant exchange transfusion.[5] Rarely, individuals present with symptoms related to extramedullary hematopoiesis (e.g., a paraspinal mass causing spinal cord compression, pulmonary masses).[6][7][8] Very rarely, HS may present with hydrops fetalis or stillbirth due to severe anemia (e.g., when an infant inherits defects in membrane proteins from both parents).[9][10][11]
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