Hemoglobin Debrousse (beta 96[FG3]Leu-->Pro): a new unstable hemoglobin with twofold increased oxygen affinity.
Hemoglobin Debrousse (beta 96[FG3]Leu-->Pro) is a new unstable variant, with high oxygen affinity responsible, in the steady state, for an apparently well-compensated chronic hemolytic anemia. The functional properties of this variant are due to the replacement of a leucine residue which is involved in the hydrophobic environment of the proximal side of the heme. This electrophoretically neutral hemoglobin was found as a de novo case in a 6-year-old girl suffering from severe anemia with hemolysis and transient aplastic crisis, following infection by parvovirus B19.
Lacan
P
P
Unité de Pathologie Moléculaire, Fédération de Biochimie, Hôpital Edouard Herriot, Lyon, France.
Kister
J
J
Francina
A
A
Souillet
G
G
Galactéros
F
F
Delaunay
J
J
Wajcman
H
H
D000328:Adult; D000595:Amino Acid Sequence; D000741:Anemia, Aplastic / Q000209:etiology; D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000235:genetics; D001483:Base Sequence; D001797:Blood Protein Electrophoresis; D002648:Child; D004252:DNA Mutational Analysis; D016731:Erythema Infectiosum / Q000150:complications; D005260:Female; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification* / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D013094:Spermatozoa / Q000737:chemistry
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C098868:hemoglobin Debrousse; D005914:Globins; C100003:deoxyhemoglobin; D010100:Oxygen