Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].
Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT-->TAT); beta9(A6)Ser-->Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC-->CCC); alpha81(F2)Ser-->Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).
Lacan
Philippe
P
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon Cedex 03, France.
Moreau
Mathieu
M
Becchi
Michel
M
Zanella-Cleon
Isabelle
I
Aubry
Martine
M
Louis
Jean-Jacques
JJ
Couprie
Nicole
N
Francina
Alain
A
D019943:Amino Acid Substitution / Q000235:genetics*; D000596:Amino Acids / Q000235:genetics; D000747:Anemia, Hypochromic / Q000235:genetics; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
D000596:Amino Acids; D003062:Codon; D006455:Hemoglobins, Abnormal; C502561:hemoglobin Brem-sur-Mer; C502562:hemoglobin Passy