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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 ( ) gene, resulting in the replacement of histidin...

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Bibliographic Details
Published in:Yonsei medical journal 2020, 61(12), , pp.1064-1067
Main Authors: Kim, Dae Sung, Baek, Hee Jo, Kim, Bo Ram, Yoon, Bo Ae, Lee, Jun Hyung, Kook, Hoon
Format: Article
Language:English
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Summary: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 ( ) gene, resulting in the replacement of histidine by tyrosine. We here report the first Korean family with HbM-Milwaukee-2, whose diagnosis was confirmed by gene sequencing. A high index of suspicion for this rare Hb variant is necessary in a patient presenting with cyanosis since childhood, along with methemoglobinemia and a family history of cyanosis.
ISSN:0513-5796
1976-2437
DOI:10.3349/ymj.2020.61.12.1064