Two different mutations in codon 97 of the beta-globin gene cause Hb Malmö in Sweden.
An abnormal hemoglobin with increased oxygen affinity, Hb Malmö [alpha 2 beta 297(FG4)His-->Gln], was found to cause erythrocytosis in two apparently unrelated Swedish families. Direct nucleotide sequencing of amplified DNA demonstrated a CAC-->CAA substitution in one family and a CAC-->CAG substitution in the other. Both mutations resulted in a His-->Gln substitution in codon 97. This finding prompted us to examine the possible point mutations underlying the different hemoglobin variants reported in the literature.
Landin
B
B
Department of Medical Laboratory Sciences and Technology, Karolinska Institute, Stockholm, Sweden.
Berglund
S
S
Wallman
K
K
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D005260:Female; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006453:Hemoglobinopathies / Q000208:ethnology / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D011086:Polycythemia / Q000208:ethnology / Q000235:genetics*; D013548:Sweden / Q000453:epidemiology
D003062:Codon; D006455:Hemoglobins, Abnormal; D005914:Globins; C041172:hemoglobin Malmo