The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia
Yonsei Medical Journal
;
: 1064-1067, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-833330
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.
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Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2020
Tipo de documento:
Artigo
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