Case history
Case history #1
A 10-year-old boy presents to the hospital emergency department with fatigue, feeling very ill, and looking very pale. On examination, he has an enlarged spleen. Initial blood tests show a severe anaemia 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 haemoglobin of 100 to 110 g/L (10-11 g/dL).
Case history #2
A 45-year-old man without symptoms has a routine full blood count done prior to donating blood for the first time. He is informed that the haemoglobin concentration is slightly reduced, with an increase in mean corpuscular haemoglobin concentration. Spherocytes are seen on the smear, and the serum bilirubin (mainly unconjugated) is slightly elevated. On examination, 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 haemoglobin 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 haematopoiesis (e.g., a paraspinal mass causing spinal cord compression, pulmonary masses).[6][7][8] Very rarely, HS may present with hydrops foetalis or stillbirth due to severe anaemia (e.g., when an infant inherits defects in membrane proteins from both parents).[9][10][11]
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