PMID: 17952198Oct 24, 2007

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
Neeraj AgarwalJosef T Prchal

Abstract

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 expectancy. Their differentiation from polycythemia vera (PV) is crucial to avoid therapy which is otherwise reserved for PV patients. We provide an electronic version (in Microsoft excel program) of a previously reported mathematical formula for rapid calculation of P50 from venous blood gases. Estimation of P50 is an essential initial step in the evaluation of a subject with personal and family history of polycythemia.

References

Feb 2, 2016·La Revue de médecine interne·T BarbaM Pavic
Sep 16, 2015·Internal Medicine·Shinobu TamuraCeleste Bento
Sep 17, 2008·Journal of Internal Medicine·Elisa RumiM Lazzarino
May 20, 2008·Hematological Oncology·Elisa Rumi
Jul 19, 2013·Hemoglobin·Guilaine BoursierPatricia Aguilar Martinez
May 24, 2016·Scientific Reports·Poonam SoreeShashi Bala Singh
Jul 13, 2019·Pediatric Hematology and Oncology·Tristan KnightYaddanapudi Ravindranath
Mar 3, 2015·Nature Neuroscience·Ethan A WinklerBerislav V Zlokovic
Nov 3, 2017·Case Reports in Hematology·Vikram M RaghunathanDiana O Treaba

Citations

May 1, 1976·Annals of Internal Medicine·M A LichtmanJ W Adamson
Aug 26, 1983·Journal of Chromatography·C N OuA J Alpert
Mar 1, 1995·Current Opinion in Hematology·Josef T Prchal
Nov 5, 2002·Nature Genetics·Sonny O AngJosef T Prchal
Jan 16, 2007·Human Mutation·Belinda GiardineGeorge P Patrinos

Related Concepts

Polycythemia Vera
Dioxygen
Work-up
Beta-Globins
Familial Erythrocytosis
Nucleic Acid Sequencing
Etiology
Cell Differentiation Process
Mathematical Formula
Oxygen Affinity

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