The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia

Hemoglobin M (HbM) is a group of abnormal hemoglobin variants that form methemoglobin, which leads to cyanosis and hemolytic anemia. HbM-Milwaukee-2 is a rare variant caused by the point mutation CAC>TAC on codon 93 of the hemoglobin subunit beta (HBB) gene, resulting in the replacement of histid...

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Detalles Bibliográficos
Autores principales: Kim, Dae Sung, Baek, Hee Jo, Kim, Bo Ram, Yoon, Bo Ae, Lee, Jun Hyung, Kook, Hoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700874/
https://www.ncbi.nlm.nih.gov/pubmed/33251782
http://dx.doi.org/10.3349/ymj.2020.61.12.1064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700874/
https://www.ncbi.nlm.nih.gov/pubmed/33251782
http://dx.doi.org/10.3349/ymj.2020.61.12.1064

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