[Hb M-Iwate [alpha 87 (F8) His-->Tyr]: analysis of the genomic DNA and biosynthesis].

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.

• Authors: M Orisaka, T Sasaki, J Kato, K Harano, T Harano
• Journal: Rinsho byori. The Japanese journal of clinical pathology (Rinsho Byori) Vol. 43 Issue 3 Pg. 295-9 (Mar 1995) ISSN: 0047-1860 [Print] Japan
• PMID: 7745837 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• hemoglobin M Iwate
• Hemoglobin M

Topics

• Adult
• Amino Acid Sequence
• Base Sequence
• Cyanosis (genetics)
• Female
• Hemoglobin M (biosynthesis, chemistry, genetics)
• Humans
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Reticulocytes (metabolism)