Clinical Characteristics and Treatment Outcome of Hereditary Spherocytosis: A Single Center’s Experience

Clinical Characteristics and Treatment Outcome of Hereditary Spherocytosis: A Single Center's ExperienceH ereditary spherocytosis (HS) is the most frequent form of non-immune hemolytic anemia in children.The signs and symptoms might appear at any age, which include anemia of various severity, jaundice, splenomegaly, as well as asymptomatic cholelithiasis.The underlying pathology involves a congenital membrane protein defect in which erythrocytes are transformed into the shape of spherocytes, leading to increased susceptibility to hemolysis.Seventy-five percent of the cases show autosomal dominant inheritance, whereas 25% of the patients have no family history.[1,2] The laboratory findings of the disease include compensatedObjectives: The objective of the study is to present the demographic characteristics, clinical and laboratory features and outcome of our patients with hereditary spherocytosis (HS).Methods: Demographic, clinical, and laboratory data; complications; and splenectomy results were analyzed retrospectively.The severity of the disease was scaled according to Eber's criteria.Results: Sixty-nine patients (42 boys, 27 girls, median age: 3 years) were eligible.Sixty-eight percent of the patients had a history of neonatal jaundice.The complaints at admission were jaundice (71%), fatigue (27.5%), fainting (4.3%), and pallor (4.3%).The median follow-up duration was 8.5 years.According to Eber's criteria, three (4.3%),57 (82.6%), and nine (13.1%) patients had mild, moderate, and severe diseases, respectively.Thirty-six patients (52.1%) had a splenectomy.Following splenectomy, we observed a significant rise in hemoglobin levels and a decline in indirect bilirubin levels.Post-operative thrombocytosis was common, with a tendency to fall and stabilize after 1 month.There were no thromboembolic complications.Conclusion: In spite of the high rate of consanguinity, familial history of HS, and neonatal jaundice in our study group, the majority of the HS patients were identified relatively late, about 3 years.This finding shows that HS might be insufficiently acknowledged by primary care.Splenectomy, in selected cases, may reduce the need for transfusions.Post-splenectomy transient thrombocytosis is common and has a benign course.