CLINICAL AND LABORATORY EVALUATION OF OUR PATIENTS WITH HEREDITARY SPHEROCYTOSIS

Abstract

Objective: Hereditary spherocytosis (HS) is a non-immune hemolytic anemia occurring with anemia, jaundice, splenomegaly symptoms in which the cell membrane of the erythrocytes is transformed into the shape of spherocytes due to congenital membrane protein defects. In this study, the demographic characteristics, clinical and laboratory findings, as well as complications during the follow up of our patients with HS are presented. Methodology: All patients who were diagnosed with hereditary spherocytosis and followed in our pediatric hematology clinic between 2000 and 2021 years were included in the study. Gender, age consanguinity of the parents, family history of HS and splenectomy, the neonatal phototherapy history were retrospectively recorded from patients’ files. The complaints, physical examination findings, and laboratory findings at the first admission were evaluated. Duration of follow-up, transfusion frequency,splenectomy requirement, and response to splenectomy were also recorded. Results: Sixty-seven patients (41 male, 27 female) were religible for the study. The median age of diagnosis was 3 years (range 18 day-15 years). Consanguineous marriage rate was 29.9% whereas 62.7% of the patients had a family history of HS. Neonatal hyperbilirubinemia was present in 67.1% of the patients. The median follow-up period was 8.5 years.The complaints at admission were jaundice (64.2 %), fatigue (26.9 %) and fainting (7.5 %). Physical examination revealed hepatomegaly and splenomegaly in 65.6% and 77.6% of the patients, respectively. Hemoglobin mean values at the time of the admission was 8.3±2.1 g/dl, ranging between 5.1-15.3 g/dl. The mean MCV value was 83.1±9.7fl, mean value of MCH was 28.8±2.9 pg, mean MCHC value was 34.9±1.6 g/l, mean indirect bilirubin was 3.5 ± 4 mg/dl. There were various degrees of spherocytosis observed in peripheral smear examinations in all patients. Incubated osmotic fragility test confirmed the diagnosis in all cases. During follow-up, 24 patients (35.8%) never needed a transfusion; 10 (14.9%) patients had an increased need for transfusion in infection periods; eight patients (12%) were regularly transfused, other 25 patients were transfused one or two times, not regularly. 29 (43.2%) had a splenectomy, 41% of the patients who had a splenectomy had a simultaneous cholecystectomy because of the bile sludge and gallstones identified in the ultrasound. Laboratory findings of the patients were also evaluated before splenectomy and two months after splenectomy. Hemoglobin and platelet levels increased significantly (p<0.01), and indirect bilirubin levels significantly decreased (p<0.01), but no significant difference was found in MCHC levels (p=0.648) Splenectomy halted transfusion dependency in 96% of patients. Conclusion: HS is a relatively benign form of hemolytic anemia during childhood. Despite high frequency of consangineuous marriage, familial history of HS, and neonatal hyperbilirubinemia in our cohort, most of the patients were diagnosed relatively late, around three years. This finding indicate to underrecognition of HS in primary care. One-thirds of the patients have mild disease and they can be managed conservatively. Splenectomy, in selected cases, may provide clear increase in hemoglobin levels, and decrease in transfusion need.