Ontology highlight
ABSTRACT:
SUBMITTER: Agarwal N
PROVIDER: S-EPMC2016865 | biostudies-other | 2007 Oct
REPOSITORIES: biostudies-other
Agarwal Neeraj N Mojica-Henshaw Mariluz P MP Simmons Elizabeth D ED Hussey Dottie D Ou Ching N CN Prchal Josef T JT
International journal of medical sciences 20071004 4
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). Polycythemic subjects with high affinity Hb variant are asymptomatic with normal life expecta ...[more]