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Yonsei medical journal · Dec 2020
Case ReportsThe First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia.
- Dae Sung Kim, Hee Jo Baek, Bo Ram Kim, Bo Ae Yoon, Jun Hyung Lee, and Hoon Kook.
- Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, Korea.
- Yonsei Med. J. 2020 Dec 1; 61 (12): 1064-1067.
AbstractHemoglobin 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.© Copyright: Yonsei University College of Medicine 2020.
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