Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.

Abstract

Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 +/- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modification determined by protein chemistry methods (reversed phase high performance liquid chromatography and mass spectrometry). Possible mechanisms underlying the beta(+)-thalassemia-like expression of this variant are discussed.

• Authors: H Wajcman, A Lahary, D Promé, J Kister, J Riou, C Godart, C Préhu, J Traeger-Synodinos, I Papassotiriou, F Galactéros
• Journal: Hemoglobin (Hemoglobin) Vol. 25 Issue 1 Pg. 57-65 (Feb 2001) ISSN: 0363-0269 [Print] England
• PMID: 11300350 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon
• Hemoglobins, Abnormal
• hemoglobin Mont Saint Aignan
• Globins
• Oxygen

Topics

• Adult
• Amino Acid Sequence
• Amino Acid Substitution
• Anemia, Hemolytic, Congenital (blood, genetics)
• Base Sequence
• Chromatography, High Pressure Liquid
• Codon (genetics)
• Female
• Globins (biosynthesis, genetics)
• Hemoglobinopathies (blood, genetics)
• Hemoglobins, Abnormal (chemistry, genetics, isolation & purification)
• Humans
• Mass Spectrometry
• Middle Aged
• Molecular Sequence Data
• Mutation, Missense
• Oxygen (metabolism)
• Pregnancy
• Pregnancy Complications, Hematologic (blood)