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Erschienen in: Wiener klinische Wochenschrift 15-16/2019

02.07.2019 | short report

Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr)

verfasst von: Dr. Wolfgang J. Schnedl, Robert Queissner, Michael Schenk, Dietmar Enko, Harald Mangge

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 15-16/2019

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Summary

Healthy human blood contains only a trace amount of methemoglobin (Hb M), less than 1%. In Hb M iron is present in the oxidized ferric state (Fe3+) not in the reduced ferrous form (Fe2+) and this reduces the ability of hemoglobin to bind oxygen. The described rare hemoglobin variant Hb M‑Hyde Park (also known as Hb M-Akita) results from the substitution of amino acid tyrosine by histidine at position 93 of the beta-globin chain of hemoglobin. The rare Hb variant Hb M‑Hyde Park (Hb M‑Akita) is mainly inherited autosomal dominant and causes methemoglobinemia. Due to the low frequency of inherited Hb M variants, the diagnosis is challenging. Here, we here report on a family with Hb M‑Hyde Park (Hb M‑Akita) whose members demonstrated Hb M > 10%, but were, asymptomatic except for chronic cyanosis. Due to human mobility and migration other hemogobin variants, such as beta-thalassemia minor have spread to Austria . A genetic combination of two different hemoglobin variants may result in severe anemia. Genetic counseling for patients with hemoglobin variants, including Hb M‑Hyde Park (Hb M‑Akita) and beta-thalassemia minor, is essential.
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Metadaten
Titel
Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr)
verfasst von
Dr. Wolfgang J. Schnedl
Robert Queissner
Michael Schenk
Dietmar Enko
Harald Mangge
Publikationsdatum
02.07.2019
Verlag
Springer Vienna
Erschienen in
Wiener klinische Wochenschrift / Ausgabe 15-16/2019
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI
https://doi.org/10.1007/s00508-019-1525-2