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KMID : 0311120200610121064
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Yonsei Medical Journal
2020 Volume.61 No. 12 p.1064 ~ p.1067
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The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia
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Kim Dae-Sung
Baek Hee-Jo
Kim Bo-Ram
Yoon Bo-Ae
Lee Jun-Hyung
Kook Hoon
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Abstract
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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.
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KEYWORD
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Hemoglobin M-Milwaukee-2, methemoglobinemia, cyanosis, congenital hemolytic anemia
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