Congenital erythrocytosis
Data(s) |
01/05/2016
31/12/1969
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Resumo |
<p>INTRODUCTION: Congenital erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an erythrocytosis.</p><p>MATERIAL AND METHODS: Primary causes include erythropoietin receptor mutations. Congenital secondary causes include mutations in the genes involved in the oxygen-sensing pathway and haemoglobins with abnormal oxygen affinity. Investigations for the cause include an erythropoietin level, oxygen dissociation curve, haemoglobin electrophoresis and sequencing for known gene variants.</p><p>RESULTS: The finding of a known or new molecular variant confirms a diagnosis of congenital erythrocytosis. A congenital erythrocytosis may be an incidental finding but nonspecific symptoms are described. Major thromboembolic events have been noted in some cases. Low-dose aspirin and venesection are therapeutic manoeuvres which should be considered in managing these patients.</p><p>CONCLUSIONS: Rare individuals presenting often at a young age may have a congenital erythrocytosis. Molecular investigation may reveal a lesion. However, in the majority, currently no defect is identified.</p> |
Identificador | |
Idioma(s) |
eng |
Direitos |
info:eu-repo/semantics/embargoedAccess |
Fonte |
McMullin , M F 2016 , ' Congenital erythrocytosis ' International Journal of Laboratory Hematology , vol 38 , no. s1 . DOI: 10.1111/ijlh.12506 |
Tipo |
article |