Hereditary Spherocytosis in Children: From Pathophysiology to Long-Term Hematology & Oncology Management

Background: Hereditary spherocytosis (HS) is the most frequent inherited hemolytic anemia in individuals of Northern European descent, with an estimated prevalence of ۱:۲,۰۰۰. It results from mutations in genes encoding red cell membrane proteins (ankyrin, spectrin, band ۳, protein ۴.۲). Loss of membrane surface area produces rigid spherocytes that are sequestered and destroyed in the spleen, leading to chronic extravascular hemolysis. Clinical Features: The spectrum ranges from asymptomatic carriers to severely affected neonates. Many infants present with neonatal jaundice requiring phototherapy or exchange transfusion. The classical triad comprises anemia, jaundice, and splenomegaly, although not all are present simultaneously. Over time, complications such as pigment gallstones and aplastic crises (often triggered by parvovirus B۱۹) may occur. Diagnostic Evaluation: Routine investigations reveal normocytic anemia, elevated mean corpuscular hemoglobin concentration (MCHC ۳۶ g/dL), reticulocytosis, and spherocytes on peripheral smear. Hemolysis markers typically include elevated indirect bilirubin and LDH with reduced haptoglobin. The direct antiglobulin test is essential to exclude autoimmune hemolysis. Confirmatory assays include the osmotic fragility test, the acidified glycerol lysis test, and particularly the eosin-۵-maleimide (EMA) binding test, which offers the highest sensitivity and specificity. Management: Daily folic acid supplementation is recommended for all patients. Splenectomy is indicated in moderate-to-severe anemia, transfusion dependence, or symptomatic splenomegaly; timing is generally deferred until after ۵-۶ years to minimize the risk of overwhelming post-splenectomy infection. Partial splenectomy may be considered in young children to balance hemolysis control with immune preservation. Comprehensive perioperative care includes pneumococcal, meningococcal, and Haemophilus influenzae type b vaccination, as well as long-term vigilance for febrile illness. Transfusions remain essential during aplastic crises or in severely affected children. Prognosis and Follow-Up: Most patients, with appropriate diagnosis and individualized management, achieve near-normal life expectancy. Lifelong follow-up should monitor hemolysis markers, iron overload in transfused patients, and hepatobiliary complications such as gallstones. Conclusion: HS is a common and clinically heterogeneous disorder in pediatric hematology practice. Advances in diagnostic assays and evolving approaches to splenectomy have improved patient outcomes. Effective management requires an integrated strategy combining supportive care, judicious surgical intervention, vaccination, and structured long-term follow-up.

کلیدواژه ها:

Hereditary spherocytosis ، pediatric hematology ، hemolytic anemia ، splenectomy ، red blood cell membrane disorders