Literature DB >> 11300350

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

H Wajcman1, A Lahary, D Promé, J Kister, J Riou, C Godart, C Préhu, J Traeger-Synodinos, I Papassotiriou, F Galactéros.   

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.

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Year:  2001        PMID: 11300350     DOI: 10.1081/hem-100103070

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  2 in total

Review 1.  The molecular basis of β-thalassemia.

Authors:  Swee Lay Thein
Journal:  Cold Spring Harb Perspect Med       Date:  2013-05-01       Impact factor: 6.915

2.  Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia.

Authors:  Alexandra Agapidou; Paul King; Cecilia Ng; Dimitris A Tsitsikas
Journal:  Hematol Rep       Date:  2018-01-03
  2 in total

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