Skip to main content
main-content

Tipp

Weitere Artikel dieser Ausgabe durch Wischen aufrufen

02.07.2019 | short report | Ausgabe 15-16/2019

Wiener klinische Wochenschrift 15-16/2019

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

Zeitschrift:
Wiener klinische Wochenschrift > Ausgabe 15-16/2019
Autoren:
Dr. Wolfgang J. Schnedl, Robert Queissner, Michael Schenk, Dietmar Enko, Harald Mangge
Wichtige Hinweise
All authors have approved the final version of this manuscript.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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.

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Sie möchten Zugang zu diesem Inhalt erhalten? Dann informieren Sie sich jetzt über unsere Produkte:

Abo für kostenpflichtige Inhalte

Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 15-16/2019

Wiener klinische Wochenschrift 15-16/2019 Zur Ausgabe

muw researcher of the month

muw researcher of the month

mitteilungen der gesellschaft der ärzte in wien

Veranstaltungstipps