1. [Hb M-Iwate [alpha 87 (F8) His-->Tyr]: analysis of the genomic DNA and biosynthesis].
- Author
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Orisaka M, Sasaki T, Kato J, Harano K, and Harano T
- Subjects
- Adult, Amino Acid Sequence, Base Sequence, Cyanosis genetics, Female, Hemoglobin M biosynthesis, Hemoglobin M chemistry, Humans, Molecular Sequence Data, Mutation, Polymerase Chain Reaction, Reticulocytes metabolism, Hemoglobin M genetics
- Abstract
Hb M-Iwate [alpha 87 (F8) His-->Tyr] was identified as the cause of cyanosis in a 21-year-old Japanese female. Amplification and sequencing of the alpha 2- and alpha 1-genes demonstrated the mutation CD87 CAC (His)-->TAC (Tyr) in the alpha 2-gene. Analysis of the in vitro globin biosynthesis in the reticulocytes disclosed a well-balanced beta/alpha synthetic ratio of 1.04 but an unexpectedly low alpha M/total alpha. Although the cause of the lowered alpha M-globin biosynthesis is not yet clear, it might be related to a defect in chain assembly rather than to a modified stability or a reduced amount of the abnormal alpha-globin mRNA.
- Published
- 1995