Hereditary spherocytosis: Retrospective evaluation of 65 children

Özet

Hereditary spherocytosis (HS) is a common cause of congenital hemolyticanemia in Caucasians and it could be diagnosed at any age. The aim of thisstudy is to examine the demographic characteristics, clinical features andlaboratory findings of children with HS and their complications observedduring follow up. Sixty-five patients, with hereditary spherocytosis betweenJanuary 2008 and September 2013, were enrolled into this retrospective study.The age of patients at the time of diagnosis varied between 15 days and 17years. The median age of patients at diagnosis was 48 months (IQR 2-78).The female/male ratio was 1.1. Forty-seven patients (72.3%) had a familyhistory of HS. The patients were classified according to laboratory findings:13 of them (20%) were diagnosed as mild HS, 36 (55.4%) as moderate HSand of 16 (24.6%) as severe HS. During follow-up, nine patients (13.8%)experienced an aplastic crisis. Megaloblastic crisis was not observed inany patient. Twenty patients (30.8%) had cholelithiasis. Splenectomy wasperformed in 20% of patients and the mean age for splenectomy was 8.3years. Complications such as sepsis or thrombosis were not detected aftersplenectomy. Hereditary spherocytosis should be kept in mind in patients withanemia, jaundice and splenomegaly and the family history must be questioned.The most common complication was gallstone; even patients without severehemolysis should be followed intermittently by abdominal ultrasonographyin order to control the development of gallstone