Clinical Course In Children Diagnosed With Hereditary Spherocytosis In Albania

Objective To describe the clinical spectrum of children diagnosed during 15 years with hereditary spherocytosis, classify them on 4 groups based on their clinical data and evaluating their outcome and giving our recommendations for their management. Methods This is a analytic, observational, retrospective and case-control study analyses of 30 children diagnosed and followed up at our center during 15 years (2003–2018). The patient were diagnosed with hereditary spherocytosis based on their clinical history, clinical examinations, and on a positive osmotic fragility curve. They were divided based on the clinical form on 4 groups : mild, moderate, moderate to severe and severe group. The groups were compared between them regarding the laboratory data, the need for transfusion, cholelithiasis, splenic sequestration, aplastic crises and splenectomy. Results In our study 3 patients had mild H.S (10%), 10 patients had moderate H.S (33.3%), 10 patients had moderate to severe H.S (33.3%) and 7 patients had severe H. S (23.4%). The mean age at diagnosis was 4.7 years Patient with severe form were younger than patients with moderate form (p=0.016) and had lower hemoglobin level (p≤0.001), higher reticulocyte count (p=0.049) and also needed more transfusions (p=0.002). There was not found a correlation between the level of bilirubin and clinical gravity (p=0.873). Splenic sequestration was commonly found, 63.3% of patiens experienced a splenic sequestration and its frequency was significant higher in severe patients (p=0.011). Cholelithiasis was present in half of the patients but its development was not related with disease’s severity (p=0.391). Aplastic crisis was relatively rare, only one patient developed aplastic crisis and it was due to parvovirus infection. Splenectomy was performed in 16 patients (53.3%) with the main indication transfusion dependence and splenic sequestration. Conclusion We have a high number of children with severe clinical forms because as they do severe forms they came at our center and are diagnosed compare with mild forms which are asymptomatic and remain undiagnosed. The clinical course of our patients was relatively benign, but we still have a high frequency of splenic sequestration 63.3% (most of them due to recurrent infections) a high rate of blood transfusion (54%) and a high number of splenectomised patients.