The complete evaluation of erythrocytosis: congenital and acquired

MM Patnaik, A Tefferi - Leukemia, 2009 - nature.com
The approach to a patient with erythrocytosis is greatly simplified by assessing the clonality
of the process upfront. In this regard, there has been a dramatic shift toward genetic testing …

GBT 440 increases haemoglobin oxygen affinity, reduces sickling and prolongs RBC half‐life in a murine model of sickle cell disease

D Oksenberg, K Dufu, MP Patel… - British journal of …, 2016 - Wiley Online Library
A major driver of the pathophysiology of sickle cell disease (SCD) is polymerization of
deoxygenated haemoglobin S (HbS), which leads to sickling and destruction of red blood …

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

LJ Huang, YM Shen, GB Bulut - British journal of haematology, 2010 - Wiley Online Library
Primary familial and congenital polycythemia (PFCP) is an autosomal‐dominant proliferative
disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to …

[HTML][HTML] Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

C Camps, N Petousi, C Bento, H Cario, RR Copley… - …, 2016 - ncbi.nlm.nih.gov
Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated
hemoglobin concentration and hematocrit. Several genetic variants have been identified as …

High‐oxygen‐affinity hemoglobinopathy‐associated erythrocytosis: clinical outcomes and impact of therapy in 41 cases

N Gangat, JL Oliveira, JD Hoyer… - American journal of …, 2021 - Wiley Online Library
We describe presenting features, treatment strategies, and follow‐up events involving 41
patients (median age 39 years, range 1–81; 54% males) with high oxygen affinity (HOA) …

Blood gas analysis and cooximetry in retired racing Greyhounds

S Zaldivar‐Lopez, HK Chisnell… - Journal of Veterinary …, 2011 - Wiley Online Library
Objective–The purposes of this study were to evaluate the oxygen affinity of hemoglobin
(Hb) in healthy retired racing Greyhounds via cooximetry, and to establish reference …

Ultra-rare Hb Regina (HBB: c. 289C> G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis

N Mallik, M Jamwal, R Sharma, N Singh… - Journal of Clinical …, 2022 - jcp.bmj.com
High oxygen-affinity haemoglobins (Hb) are among the earliest recognised molecular
defects in patients with inherited forms of erythrocytosis, and several α-globin and β-globin …

[HTML][HTML] Haemoglobinopathia Ypsilanti–A rare, but important differential diagnosis to polycythaemia vera

M Nygaard, J Petersen, OW Bjerrum - Leukemia Research Reports, 2013 - Elsevier
We present a case of a mother and daughter who were initially diagnosed with
polycythaemia vera and treated with venesectio. As JAK2 V6217F/exon 12 mutation …

Symptomatic erythrocytosis associated with a compound heterozygosity for Hb lepore-boston-Washington (δ87-β116) and Hb Johnstown [β109 (G11) Val→ leu, G TG …

S Inoue, JL Oliveira, JD Hoyer, M Sharman - Hemoglobin, 2012 - Taylor & Francis
Hb Johnstown [β109 (G11) Val→ Leu, G TG> T TG] has previously been described as a high
oxygen affinity variant in a heterozygous state and in combination with β0-thalassemia (β0 …

Hb Johnstown is detected on Mindray BC 6800 Plus analyzer

E Urrechaga, M Fernández, R Orbe - Clinical Chemistry and …, 2021 - degruyter.com
Hemoglobin (Hb) variants are genetic variations in the globin genes that code for an
abnormal globin protein structure and represent the world's most frequently found …