Journal ArticleDOI
High oxygen affinity hemoglobins
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TLDR
The diagnosis is based on the identification of a decreased P50, and their possible characterization by cation exchange-high performance liquid chromatography and capillary electrophoresis and genetic studies of the responsible globin chain gene will confirm the mutation.Abstract:
High oxygen affinity hemoglobins are responsible for rare and heterogeneous autosomic dominant genetic diseases. They cause pure erythrocytosis, sometimes accountable for hyperviscosity and thrombosis, or hemolysis. Differential diagnoses must be first ruled out. The diagnosis is based on the identification of a decreased P50, and their possible characterization by cation exchange-high performance liquid chromatography and capillary electrophoresis. Finally, genetic studies of the responsible globin chain gene will confirm the mutation. The prognosis mainly relies on the P50 decrease rate and on the hemoglobin cooperativity impairment. Disease management should be personalized, and it should primarily depend on smoking cessation and physical activity. Phlebotomy and platelet aggregation inhibitors' prescriptions can be discussed. There is no contraindication to flights, high-altitude conditions, or pregnancy. Nevertheless, blood donation must be prohibited.read more
Citations
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Journal ArticleDOI
A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis: A British Society for Haematology Guideline
McMullin Mff.,Adam J. Mead,Sahra Ali,C Cargo,Chen F,Joanne Ewing,Mamta Garg,Anna L. Godfrey,Steve Knapper,Donal P. McLornan,Jyoti Nangalia,Mallika Sekhar,Frances Wadelin,Claire N. Harrison +13 more
TL;DR: Recommendations for the diagnostic pathway of investigation of an erythrocytosis, risk stratification and management of PV are in the accompanying guideline (McMullin et al, 2018) and outline guidance on management of acuteThrombotic events and secondary prevention of thrombosis in PV are outlined.
Journal ArticleDOI
Investigation of the differences between the Tibetan and Han populations in the hemoglobin-oxygen affinity of red blood cells and in the adaptation to high-altitude environments.
TL;DR: The adaptability of the Tibetan and plateau Han populations to the plateau was mainly due to the strong affinity of HGB for oxygen, which provided sufficient oxygen for tissues and organs.
Journal ArticleDOI
Functional effects of protein variants.
TL;DR: A systematic conceptualisation and framework describes protein functional effects on abundance, activity, specificity and affinity, along with countermeasures, which allow cells, tissues and organisms to tolerate, avoid, repair, attenuate or resist (TARAR) the effects.
Journal ArticleDOI
Influence of High Hemoglobin-Oxygen Affinity on Humans During Hypoxia
Kevin L. Webb,Paolo B. Dominelli,Sarah E. Baker,Stephen A. Klassen,Michael J. Joyner,Jonathon W. Senefeld,Chad C. Wiggins +6 more
TL;DR: The purpose of this review is to examine the influence of high Hb-O2 affinity during hypoxia through comparison of cardiovascular and respiratory adjustments elicited by humans with high HB-O1 affinity compared to those with normal Hb -O2 affinities.
Journal ArticleDOI
Hemoglobins emerging roles in mental disorders. Metabolical, genetical and immunological aspects
Meric A. Altinoz,Bahri Ince +1 more
TL;DR: It is demonstrated a protective role of minor HbA2 against post‐partum episodes in BD and association of higherMinor HbF (fetal hemoglobin) levels with family history of psychosis in a BD‐patient cohort.
References
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Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
TL;DR: Current and developing approaches to treatment are incorporated, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy.
Journal ArticleDOI
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Belinda Giardine,Joseph Borg,Emmanouil Viennas,Cristiana Pavlidis,Kamran Moradkhani,Philippe Joly,Marina Bartsakoulia,Cathy Riemer,Webb Miller,Giannis Tzimas,Henri Wajcman,Ross C. Hardison,George P. Patrinos +12 more
TL;DR: These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community.
Journal ArticleDOI
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
Melanie J. Percy,Quan Zhao,Adrian G. Flores,Claire N. Harrison,Terence R.J. Lappin,Patrick H. Maxwell,Mary Frances McMullin,Frank S. Lee +7 more
TL;DR: It is indicated that PHD2 is critical for normal regulation of HIF in humans, and an inherited mutation in a mammalian PHD enzyme results in a marked decrease in enzyme activity and is associated with familial erythrocytosis, identifying a previously unrecognized cause of this condition.
Journal ArticleDOI
Testosterone Induces Erythrocytosis via Increased Erythropoietin and Suppressed Hepcidin: Evidence for a New Erythropoietin/Hemoglobin Set Point
Eric Bachman,Thomas G. Travison,Shehzad Basaria,Maithili N. Davda,Wen Guo,Michelle Li,John Connor Westfall,Harold Bae,Victor R. Gordeuk,Shalender Bhasin +9 more
TL;DR: Testosterone-induced increase in hemoglobin and hematocrit is associated with stimulation of EPO and reduced ferritin and hepcidin concentrations, suggesting a new set point for erythropoiesis.
Journal ArticleDOI
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors
Victor R. Gordeuk,Adelina I. Sergueeva,Galina Y. Miasnikova,Daniel J. Okhotin,Yaroslav Voloshin,Peter L. Choyke,John A. Butman,Katerina Jedlickova,Josef T. Prchal,Lydia A. Polyakova +9 more
TL;DR: Chuvash polycythemia is a distinct VHL syndrome manifested by thrombosis, vascular abnormalities, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.