title: Haematological findings in children with inborn errors of metabolism.
abstract: Early detection and therapy of haematological abnormalities and/or diseases may improve the prognosis of metabolic disorders. Accordingly, we aimed to evaluate the frequency and types of haematological abnormalities in children[-31pc] with various inherited metabolic disorders. The study group comprised 46 children with metabolic disorders who were followed at the Pediatric Metabolism Unit and were referred to the Pediatric Hematology Unit for evaluation of anaemia between June 2000 and 2005. The mean age of the children was 55.2 +/- 64.8 months at haematological evaluation (range 1 month-18 years, median 22.0 months); 16 were female and 30 were male. Of these 46 patients with anaemia, 25 of (54.3%) had anaemia of chronic disease (ACD), 9 (19.6%) had iron-deficiency anaemia (IDA), 7 (15.2%) had megaloblastic anaemia due to vitamin B(12) deficiency, 3 (6.5%) had chronic haemolytic anaemia, 2 (4.3%) had autoimmune haemolytic anaemia, 1 had beta-thalassaemia major, and 1 had hereditary spherocytosis. In addition to the anaemia, bicytopenia or pancytopenia was found in 8 of 46 children (17.4%). The study indicated that in organic acidaemias including methylmalonic acidaemia, propionic acidaemia, isovaleric acidaemia, and argininosuccinic acidaemia, the majority of patients had ACD (75%), which was followed by vitamin B(12) deficiency anaemia and IDA (p < 0.001). In PKU, both nutritional anaemias and ACD were present at about same frequency: 46.7% and 40%, respectively (p > 0.05). This study suggested that congenital anaemias such as hereditary spherocytosis or thalassaemias should be kept in mind as a coexisting haematological diseases in young patients with inborn errors of metabolism. In conclusion, ACD and nutritional anaemias are the most prevalent anaemias seen in patients with inborn errors of metabolism. Early detection of the disease, early administration of specific diet, and close monitoring of the patients are very important factors to prevent the development of haematological diseases in patients with inborn errors of metabolism.
authors.affiliation: Pediatric Hematology Unit, Hacettepe University School of Medicine, Ankara, Turkey, fgumruk@hacettepe.edu.tr.
authors.forename: Betul
authors.initials: B
authors.lastname: Tavil
authors.forename: Hatice Serapl Kalkanoglu
authors.initials: HS
authors.lastname: Sivri
authors.forename: Turgay
authors.initials: T
authors.lastname: Coskun
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
authors.forename: Emel
authors.initials: E
authors.lastname: Ozyurek
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
authors.forename: Aysegul
authors.initials: A
authors.lastname: Tokatli
authors.forename: Cigdem
authors.initials: C
authors.lastname: Altay
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
mesh_terms: D000293:Adolescent; D000740:Anemia / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis* / Q000178:diet therapy; D009752:Nutritional Status; D011379:Prognosis