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Clinical features and outcome of children with hereditary spherocytosis
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  • Mehmet Kılıç,
  • Nihal Özdemir,
  • Tuba Tahtakesen Güçer,
  • Ezgi Uysalol,
  • Cengiz Bayram,
  • Ali Aycicek,
  • Gönül Aydoğan
Mehmet Kılıç
Istanbul Kanuni Sultan Suleyman Training and Research Hospital

Corresponding Author:[email protected]

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Nihal Özdemir
İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi
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Tuba Tahtakesen Güçer
Istanbul Kanuni Sultan Suleyman Training and Research Hospital
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Ezgi Uysalol
Istanbul University,Istanbul Medical School
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Cengiz Bayram
1 İstanbul Kanuni Sultan Suleyman Research and Training Hospital
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Ali Aycicek
Harran University Medical Faculty
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Gönül Aydoğan
Kanuni Sultan Süleyman State Hospital
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Objective: Hereditary spherocytosis is the most common erythrocyte membrane disorder characterized by splenomegaly, jaundice and anemia. The aim of this study was to evaluate the demographics, clinical and laboratory findings and treatment responses of patients with hereditary spherocytosis. Material and Method: Data of patients under the age of 18 with a diagnosis of hereditary spherocytosis between 1989-2018 were examined retrospectively. Diagnosis was based on clinical history, physical examination, family history, presence of spherocytes in peripheral smear and osmotic fragility test. Demographic, clinical and laboratory features, family history, complications, and history of splenectomy and cholecystectomy were evaluated. Results: One hundred and one patients were included. The median (range) age at diagnosis was 38.0 (1-188) months. Mild, moderate and severe forms of hereditary spherocytosis were present in 29 (28.7%), 15 (14.9%) and 57 (56.4%) patients, respectively. Family history was investigated in 73 (72.3%) and 56 (76.7%) had a family history of hereditary spherocytosis. Ninety one patients had available physical examination results; of these 79 (86.8%) had splenomegaly, 53 (58.2%) pallor and 16 (17.6%) jaundice. Forty-five (44.5%) patients needed regular transfusions and most (78.9%) of these had severe spherocytosis. Although most patients did not require transfusion post-splenectomy, two of 45 (4.4%) patients continued to require transfusion. Transfusion dependence was significantly (p<0,001) higher in patients with severe spherocytosis. Conclusions: In hereditary spherocytosis splenomegaly, pallor and jaundice are the most common physical findings. Splenectomy is effective in reducing hemolysis and virtually abolishes further requirement for transfusion. Key words: hereditary spherocytosis, anemia, hemolytic anemia, children