Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.
An abnormal hemoglobin (Hb) fraction was observed during a high performance liquid chromatographic (HPLC) Hb A1c control for diabetes mellitus in a 56-year-old north European woman. Family analyses revealed the abnormal fraction in three of her five siblings and in her son. Elevated Hb and packed cell volume (PCV) values and red blood cell (RBC) counts were present in all carriers. No histories of anemia, hemolytic or circulatory episodes were reported. The abnormal Hb fraction estimated at 40%, migrated just below Hb F on alkaline electrophoresis and overlapped the Hb A2 peak on cation exchange HPLC. Direct sequencing of the beta-globin genes revealed a new GAC --> TAC transversion in heterozygous form at codon 94 of the beta-globin gene. Based on the hematological/biochemical data and the decreased P50 value, we conclude that the new variant is a stable Hb associated with a slightly elevated oxygen affinity.
Harteveld
Cornelis L
CL
The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Thelen
Marc H M
MH
Rutten
Johannes J A
JJ
Leuverman
Jolanda
J
Akkermans
Nicole
N
van Delft
Peter
P
Arkesteijn
Sandra
S
Giordano
Piero C
PC
D019943:Amino Acid Substitution / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D005192:Family Health; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006441:Hemoglobin A / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006441:Hemoglobin A