Literature DB >> 2599881

Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted.

Y Blouquit1, J Bardakdjian, D Lena-Russo, N Arous, H Perrimond, A Orsini, J Rosa, F Galacteros.   

Abstract

Hb Bruxelles is a new beta-globin variant producing severe congenital Heinz body anemia. It results from the deletion of one of the two adjacent phenylalanines, beta 41 or beta 42, presumably by frameshift mutagenesis. Its whole blood oxygen affinity is significantly lowered.

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Year:  1989        PMID： 2599881     DOI： 10.3109/03630268908998085

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


  2 in total

Review 1.  Hemoglobin variants: biochemical properties and clinical correlates.

Authors:  Christopher S Thom; Claire F Dickson; David A Gell; Mitchell J Weiss
Journal:  Cold Spring Harb Perspect Med       Date:  2013-03-01       Impact factor: 6.915

2.  Towards a transgenic mouse model of sickle cell disease: hemoglobin SAD.

Authors:  M Trudel; N Saadane; M C Garel; J Bardakdjian-Michau; Y Blouquit; J L Guerquin-Kern; P Rouyer-Fessard; D Vidaud; A Pachnis; P H Roméo
Journal:  EMBO J       Date:  1991-11       Impact factor: 11.598
  2 in total

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