Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemia

Two polycythemic subjects from a family with multiple polycythemic subjects were evaluated. Estimation of oxygen affinity of Hb from venous blood gas parameters (P50) revealed low P50 suggesting a high affinity Hb variant. Further work up, which included beta globin gene sequencing, revealed a novel...

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Hauptverfasser: Agarwal, Neeraj, Mojica-Henshaw, Mariluz P., Simmons, Elizabeth. D., Hussey, Dottie, Ou, Ching N., Prchal, Josef T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ivyspring International Publisher 2007
Schlagworte:
Short Research Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2016865/
https://ncbi.nlm.nih.gov/pubmed/17952198
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