Clinical features and outcome of children with hereditary spherocytosis
AuthorKılıç, Mehmet A
Özdemir, Gül Nihal
Tahtakesen, Tuba Nur
Gökçe, Müge G.
Uysalol, Ezgi Paslı
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CitationKiliç, M. A., Özdemir, G. N., Tahtakesen, T. N., Gökçe, M., Uysalol, E. P., Bayram, C., ... & Aydoğan, G. (2021). Clinical Features and Outcome of Children With Hereditary Spherocytosis. Journal of Pediatric Hematology/oncology.
Objective: The aim of this study was to evaluate the demographics, clinical, and laboratory findings and treatment responses of patients with hereditary spherocytosis (HS). Materials and Methods: Data of children with HS were examined. Diagnosis was based on clinical history, physical examination, family history, presence of spherocytes on peripheral blood smear, and osmotic fragility test. Results: A total of 101 patients were included. The median (range) age at diagnosis was 38.0 (1 to 188) months. Mild, moderate, and severe forms of HS were present in 29 (28.7%), 15 (14.9%), and 57 (56.4%) patients, respectively. Family history was available in 73 patients and 56 of these (76.7%) had a positive family history for HS. Forty-five (44.5%) patients needed regular transfusions and all of these had severe disease. Although most patients did not require transfusion postsplenectomy, 2 of 45 (4.4%) patients continued to require transfusion. Transfusion dependence was significantly (P<0.001) higher in patients with severe spherocytosis. Conclusions: In HS, splenomegaly, pallor, and jaundice are the most common clinical features. Splenectomy dramatically reduces hemolysis in most cases and virtually abolishes further requirement for transfusion.