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KMID : 0384119940140040375
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Korean Journal of Clinical Pathology
1994 Volume.14 No. 4 p.375 ~ p.379
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A Case of Mutational Methemogolbinemia due to Hemoglobin M Saskatoon(B63 His - Tyr)
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성연문
서장수/이원길/김재식/이건수/박성섭/오바유조/하토리 유키오
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Abstract
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Hemoglobin M is a group of hemoglobinopathies clinically combined with methemoglobinemia and cyanosis no corrected by methylene blue therapy. Among these hemoglobin M, Hb M Saskatoon is characterized by replacement of histidine by tyrosine in
63th
amino
acid in βglobin chains. Hb M Saskatoon is very rare in the world. This is reportedly the first confirmed case of Hb M Saskatoon in Korea. The patient was a five year old boy presented with symptoms of dyspnea and cyanosis without family history.
In
isoelectrofocusing, an abnormal band was found in cathodic egde. Gas phase Edman degradation of the abnormal tryptic peptide by means of 470Å protein sequencer determined the following sequence: Ala-Tyr-Gly-Lys. This result demonstrated
substitution of
tyrosine for histidine in the second position of βT-7 peptide, which has been reported for Hb M Saskatoon.
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