Yonsei Med J.  2020 Dec;61(12):1064-1067. 10.3349/ymj.2020.61.12.1064.

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

Affiliations
  • 1Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, Korea
  • 2Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
  • 3Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea

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.

Keyword

Hemoglobin M-Milwaukee-2; methemoglobinemia,; cyanosis; congenital hemolytic anemia
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