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 hemolyticanemia. HbM-Milwaukee-2 is a rare variant caused by the point mutation CAC>TAC on codon 93 of the hemoglobin subunitbeta (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 apatient presenting with cyanosis since childhood, along with methemoglobinemia and a family history of cyanosis.