Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child.
We report a fourth case of Hb Nottingham [alpha 2 beta 2 98 (FG5) Val-->Gly] observed in an 8-year-old girl in the Czech Republic with clinical and laboratory symptoms of severe hemolytic anemia. The unstable hemoglobin probably represents a de novo mutation, since the parents of the patient and the two siblings do not exhibit any hematological abnormalities. Splenectomy had a beneficial effect on the degree of hemolysis, as well as on the Hb level.
Brabec
V
V
Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
Indrák
K
K
Fortová
H
H
Suttnar
J
J
Blazek
B
B
Cermák
J
J
Divoký
V
V
Vepreková
L
L
Zeman
J
J
D000595:Amino Acid Sequence; D002851:Chromatography, High Pressure Liquid; D018153:Czech Republic; D004247:DNA / Q000032:analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D010446:Peptide Fragments / Q000235:genetics
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C075791:hemoglobin Nottingham; D004247:DNA