TY - JOUR
T1 - Hematological abnormalities in inborn errors of metabolism - How frequent are they? The Cretan experience
AU - Evangeliou, Athanasios
AU - Dafnis, Eugene
AU - Perdikoyanni, Chrisoula
AU - Spilioti, Martha
AU - Lionis, Christos
AU - Kalmanti, Maria
PY - 2002/12
Y1 - 2002/12
N2 - 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.
AB - 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.
KW - Hematological abnormalities
KW - Inborn errors of metabolism
UR - http://www.scopus.com/inward/record.url?scp=0036892860&partnerID=8YFLogxK
U2 - 10.1080/08880010290108708
DO - 10.1080/08880010290108708
M3 - Article
C2 - 12487834
AN - SCOPUS:0036892860
SN - 0888-0018
VL - 19
SP - 581
EP - 585
JO - Pediatric Hematology and Oncology
JF - Pediatric Hematology and Oncology
IS - 8
ER -