The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia
10.3349/ymj.2020.61.12.1064
- Author:
Dae Sung KIM
1
;
Hee Jo BAEK
;
Bo Ram KIM
;
Bo Ae YOON
;
Jun Hyung LEE
;
Hoon KOOK
Author Information
1. Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, Korea
- Publication Type:Case Report
- From:Yonsei Medical Journal
2020;61(12):1064-1067
- CountryRepublic of Korea
- Language:English
-
Abstract:
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 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.
