Hereditary Spherocytosis: Evaluation of 68 Children

Abstract

To determine the clinical and hematologic features of 68 children with hereditary spherocytosis (HS). In this retrospective study, we analyzed recorded information of 68 HS patients diagnosed between March 1997 and March 2007, including clinical manifestations at admission, gender, median age at diagnosis, family history, hematologic and biochemical data, patient management, complications, median age of splenectomy, and median follow-up time. Sixty-eight patients with HS (36 male and female) were investigated. The median age at diagnosis was 5.6 years (range 3 months to 18 years). Twenty-seven (39.7 %) had parents with consanguineous marriages, and 20 (29.4 %) had parents with first-degree consanguinity. Predominant clinical manifestations at admission were anemia in 59 patients (86.76 %), splenomegaly in 49 (72.05 %), and jaundice in 33 (48.52 %). Patients were classified as mild, moderate, or severe in 29.4, 61.7, and 8.8 % of patients, respectively. Five patients (7.3 %) underwent splenectomy. Major complications of HS were hemolytic, aplastic, and megaloblastic crises and cholelithiasis in 7 (10.2 %), 1 (1.4 %), 7 (10.2 %), and 6 (8.8 %) of patients, respectively. There were no deaths during follow-up. HS should be considered in evaluating possible diagnoses in patients with hemolytic anemia. In this study, the clinical course of patients with HS was relatively benign, with low proportions of patients having splenectomized and aplastic crises.

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

“…We did not find any mutations in the EPB42 and SPTA1 genes, which were thought to be related to the sample size. Genetic studies on HS in Turkey are very limited, and there are only descriptive studies including clinical pathological phenotypes (22,23). To our knowledge, this is the first report to describe the mutational spectrum in Turkish children affected by HS.…”

Clinical Features and Outcome of Children With Hereditary Spherocytosis

“…Güngör et al10 recently evaluated 65 Turkish patients with HS and reported the median age of diagnosis at 48 months. Konca et al11 performed a study of 68 children with HS and found the age of diagnosis between 3 months and 18 years with a median of around 67 months.…”

A case report of hereditary spherocytosis (HS): Approach to diagnosis and management of HS

“…In a few reports, recombinant erythropoietin (rEPO), or long-acting darbepoetin therapy has been used as an alternative or adjunct to transfusion [9]. Folic acid supplementation is recommended in treating HS [10,11] These children should be closely observed for hematologic decompensation during acute illnesses as some of them may experience hemolytic or aplastic crises. This outcome is particularly true after 6 months of age when maternally derived immunoglobulin G antibodies to microbes have waned.…”