Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group

Fernández, Fernando Ataúlfo González; Villegas, Ana; Ropero, Paloma; Carreño, Maribel; Anguita, Eduardo; Polo, Marta; Pascual, Alfonso Luis Calle; Henández, A.

doi:10.1007/s00277-008-0581-x

Cited by 22 publications

(14 citation statements)

References 24 publications

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“…In people, hemoglobinopathies are the most frequently encountered monogenic disorders worldwide 19 . Over 900 structural Hb variations have been described, including single mutations, deletions, or insertions in the genes that encode either the α‐ or β‐globin chain.…”

Section: Discussionmentioning

confidence: 99%

Blood gas analysis and cooximetry in retired racing Greyhounds

Zaldívar‐López

Chisnell

Couto

et al. 2011

J Vet Emergen Crit Care

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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 intervals for blood gases and cooximetry in this breed. Design Prospective clinical study. Setting University Teaching Hospital. Animals Fifty-seven Greyhounds and 30 non-Greyhound dogs. Interventions Venous blood samples were collected from the jugular vein and placed into heparinized tubes. The samples were analyzed within 30 minutes of collection using a blood gas analyzer equipped with a cooximeter. Measurements and Main Results Greyhounds had significantly higher pH, PO2, oxygen saturation, oxyhemoglobin, total Hb, oxygen content, and oxygen capacity and significantly lower deoxyhemoglobin and P50 when compared with non-Greyhound dogs. Conclusion These findings support the fact that this breed is able to carry a higher concentration of total oxygen in the blood. As reported previously, this breed also has lower P50 and, therefore, high oxygen affinity. In light of recent findings suggesting that in certain tissues a high affinity for oxygen is beneficial, this adaptation may be of benefit during strenuous exercise.

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Section: Discussionmentioning

confidence: 99%

Blood gas analysis and cooximetry in retired racing Greyhounds

Zaldívar‐López

Chisnell

Couto

et al. 2011

J Vet Emergen Crit Care

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“…A review of the literature and reported cases show that erythrocytosis due to high oxygen affinity haemoglobin is usually well tolerated in younger patients, but in the elderly patients the risk of thrombosis is increased [1]. The development of pulmonary embolism in patient 1 seems to be secondary to other causes.…”

Section: Discussionmentioning

confidence: 98%

“…The haemoglobinopathia is inherited autosomally dominant and most affected individuals are heterozygote. Due to the high oxygen affinity of the haemoglobin (Hb) molecule, hypoxia arises in the tissues, and secondary erythrocytosis develops [1].…”

Section: Introductionmentioning

confidence: 99%

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

Nygaard

Petersen

Bjerrum

2013

Leukemia Research Reports

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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 analyses became available, these were performed and turned out negative. Haemoglobin electrophoresis was performed and the patients were found to have high oxygen affinity haemoglobin Ypsilanti. It is important and relevant to look for high oxygen affinity variants of haemoglobin when there is a family history of erythrocytosis, in young persons and when there is no apparent reason or clonal marker present.

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“…Over 100 variants of haemoglobin with high affinity for oxygen are described so far 6 7. Like Hb-Malmö, there are other haemoglobinopathies (Hb San Diego, Hb Johnstown, and Hb Columbia-Missouri) with high affinity for oxygen due to changes in the contact between α1-subunit and β2-subunit.…”

Section: Discussionmentioning

confidence: 99%

“…In the international literature, 10 families or single cases have been described with Hb-Malmö 2 4 6 7 – 15…”

Section: Discussionmentioning

confidence: 99%

At high altitude in the Netherlands: secondary erythrocytosis due to HB-Malmö

Santbergen

Heul

2014

BMJ Case Reports

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We describe two patients, a father and a son, presenting with erythrocytosis. Evaluation showed no pulmonal or cardial disorders. Owing to an elevated erythropoietin level after phlebotomy, a physiological secondary polycythaemia was suspected. A haemoglobin electrophoresis showed that our patients have a haemoglobinopathy with high affinity for oxygen, called Hb-Malmö (exon 3: c.294 C>G p.His98Gln). Hb-Malmö is a congenital disorder located on a gene at chromosome 11, in the B-chain on codon 97, decoding the α-subunit and β-subunit of the haemoglobin. Through a mutation (CAC→CAG), histidine is replaced by glutamine. The mutation causes a disorder in the connection between the α1-subunit and β2-subunit of the haemoglobin structure. These connections are important sites for binding oxygen. Mutated haemoglobin has a preference for an oxygenated status, which implicates that there is an increased binding and decreased release of oxygen. To compensate, there will be an erythrocytosis to transport sufficient oxygen to the peripheral tissues.

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Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group

Cited by 22 publications

References 24 publications

Blood gas analysis and cooximetry in retired racing Greyhounds

Blood gas analysis and cooximetry in retired racing Greyhounds

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

At high altitude in the Netherlands: secondary erythrocytosis due to HB-Malmö

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