Hematological abnormalities in inborn errors of metabolism--how frequent are they? The Cretan experience.
This study aimed to ascertain the frequency and type of hematological findings in a defined group of patients with inborn errors on Crete. The key role of these hematological findings in the diagnosis of the inborn errors in daily practice was explored. A variety of hematological findings were obtained from 31 of the 132 subjects who had been referred to the University Hospital of Heraklion. A diagnosis of inborn errors of metabolism (IEM) was confirmed in 21 subjects, but in 12 of them the diagnosis was combined with hematological findings. The hematological findings consist of a neglected area in the diagnosis of the IEM, and cooperation of primary care physicians and neurologists could help hematologists in the management of people with unexplained hematological symptoms and signs.
Evangeliou
Athanasios
A
Department of Pediatrics, Faculty of Medicine, University of Crete, Heraklion, Crete, Greece. evangeli@med.uoc.gr
Dafnis
Eugene
E
Perdikoyanni
Chrisoula
C
Spilioti
Martha
M
Lionis
Christos
C
Kalmanti
Maria
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006115:Greece / Q000453:epidemiology; D006402:Hematologic Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D008875:Middle Aged