Article
Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia.
International journal of medical sciences - 4 Oct 2007
Agarwal Neeraj, Mojica-Henshaw Mariluz P, Simmons Elizabeth D, Hussey Dottie, Ou Ching N, Prchal Josef T
Abstract excerpt
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 mutation changing a codon to the previously reported high affinity Hb - Hb Johnstown (beta 109 Val->Leu)....
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