Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted.
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.
Blouquit
Y
Y
INSERM U.91, Hôpital Henri Mondor, Créteil, France.
Bardakdjian
J
J
Lena-Russo
D
D
Arous
N
N
Perrimond
H
H
Orsini
A
A
Rosa
J
J
Galacteros
F
F
D000595:Amino Acid Sequence; D000740:Anemia / Q000097:blood / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D014644:Genetic Variation; D006441:Hemoglobin A / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010649:Phenylalanine
D006455:Hemoglobins, Abnormal; C062070:hemoglobin Bruxelles; D010649:Phenylalanine; D006441:Hemoglobin A