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Published on: June 14, 2024

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High-Oxygen-Affinity Hemoglobins-Case Series and Review of the Literature

Veroniki Komninaka1, Pagona Flevari1, Evangelia-Eleni Ntelaki1

  • 1Centre of Excellence in Rare Haematological (Haemoglobinopathies) & Rare Metabolic (Gaucher Disease) Diseases, Laiko General Hospital, 11527 Athens, Greece.

Journal of Clinical Medicine
|January 23, 2024
PubMed

Modifications of the hemoglobin (Hb) structure in regions involving the regulation of oxygen transport may lead to an increased oxygen affinity for the hemoglobin molecule and impaired oxygen delivery to the tissues. Herein, we present six patients with high-oxygen-affinity Hb variants, either in heterozygous form or in compound heterozygosity (such as heterozygosity for Hb Hiroshima, Köln, Crete, and compound heterozygosity Hb Crete with β or δβ thalassemia), in order to demonstrate the need for prompt and accurate diagnosis and enrich the limited literature due to the rarity of such cases. Hb Crete, Hb Hiroshima, and Hb Köln have distinct pathophysiologies and may result in different clinical phenotypes. In conclusion, high-oxygen-affinity hemoglobins are rare and inherited within a dominant autosomal manner, have various clinical presentations, and should always be suspected in patients with erythrocytosis. Their management (as phlebotomy or low-dose aspirin) should be based on an individualized assessment of the risk of complications, the medical history, concomitant symptoms, and quality of life.

Keywords:
Hb CreteHb HiroshimaHb Kölnhigh-oxygen-affinity hemoglobins

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