Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis.
J Intern Med
; 265(2): 266-74, 2009 Feb.
Article
em En
| MEDLINE
| ID: mdl-18793248
ABSTRACT
BACKGROUND:
High oxygen-affinity haemoglobin variants and 2,3-diphosphoglycerate (2,3-DPG) deficiency are inherited diseases generating low tissue oxygen tension and erythropoietin-driven erythrocytosis, that characterizes the clinical phenotype of patients. Level of blood p50 (the oxygen tension at which haemoglobin is 50% saturated) is used to recognize these conditions.OBJECTIVES:
To define the clinical utility of blood p50 measurement in the diagnosis of isolated erythrocytosis. SUBJECTS ANDDESIGN:
Venous blood p50 measurement was included in the diagnostic work-up of 102 consecutive patients with isolated erythrocytosis besides blood cell count, arterial oxygen saturation, serum erythropoietin measurement and screening for JAK2 mutations.SETTING:
Haematological Outpatient Section at University Hospital.RESULTS:
Seven patients had relative erythrocytosis. Among 95 patients with absolute erythrocytosis, 4 (4.2%) had decreased p50 level. The extended study of family members revealed a familial inheritance. Two families had haemoglobin variants already described as Haemoglobin Malmö and Haemoglobin San Diego. In one family, the proband had a new high oxygen-affinity haemoglobin variant (Haemoglobin Safi) resulting from the transversion C-->A at codon 81 of the alpha2-globin gene. In the last family, a deficiency of 2,3-DPG was found. Within the 91 patients with normal p50 values, 46 (51%) had secondary erythrocytosis, 13 (14%) polycythemia vera and 32 (35%) idiopathic erythrocytosis.CONCLUSIONS:
This study suggests that the investigation of blood p50 level may be useful to define diagnosis in patients with isolated erythrocytosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Oxigênio
/
Policitemia
/
Eritropoetina
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article