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

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 he...

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Bibliographic Details
Published in:Journal of clinical medicine 2024-01, Vol.13 (2), p.458
Main Authors: Komninaka, Veroniki, Flevari, Pagona, Ntelaki, Evangelia-Eleni, Yfanti, Eleni, Androutsakos, Theodoros, Ntanasis-Stathopoulos, Ioannis, Terpos, Evangelos
Format: Article
Language:English
Subjects:
Blood
Blood diseases
Care and treatment
Diagnosis
Expected values
Families & family life
Females
Gene mutations
Genetic aspects
Glycosylated hemoglobin
Headaches
Health aspects
Hemoglobin
Hemoglobinopathy
Measurement
Mutation
Patients
Thrombosis
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Summary: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.
ISSN:2077-0383
2077-0383
DOI:10.3390/jcm13020458