Τίτλος:
Unusual phenotypic observations associated with a rare HbH disease
genotype (--(Med)/alpha(TSaudi)alpha): implications for clinical
management
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
A single patient with a rare Haemoglobin H (HbH) disease genotype
(–(Med)/alpha(TSaudi)alpha) was observed to have exceptionally high
levels of HbH (> 60%) and paradoxically high total haemoglobin levels.
Studies of haematological parameters, blood biochemistry and oxygen
transport properties revealed a severe functional anaemia, associated
with marked erythropoietic stimulation and a markedly raised cardiac
output. This rare case illustrates the complexity of interactions that
may be associated with the clinical course of HbH disease, highlighting
that haematological parameters alone may lead to spurious evaluation of
clinical status. Issues related to the therapeutic management of unusual
cases are raised.
Συγγραφείς:
Traeger-Synodinos, J
Papassotiriou, I
Karagiorga, M and
Premetis, E
Kanavakis, E
Stamoulakatou, A
Περιοδικό:
British Journal of Haematology
Λέξεις-κλειδιά:
HbH disease; functional anaemia
DOI:
10.1046/j.1365-2141.2002.03777.x
