Estimation of highly increased concentrations of fetal hemoglobin in Fanconi's anemia.
We report a case of Fanconi's anemia with an extremely high proportion of fetal hemoglobin (Hb F). A three-year-old girl with multiple birth defects, mental retardation, and aplastic anemia consistent with Fanconi's anemia showed Hb AF by electrophoresis; the Kleihauer smear showed Hb F in 70% of her erythrocytes. Total Hb concentration was 34 g/L, mean corpuscular volume 119 fL. The proportion of Hb F was 45% by densitometry, 36% by radial immunodiffusion, and 30% by cation-exchange microchromatography. The Hb A2 was 0.5%; glycated Hb was 7.8% by affinity chromatography. Sample volume was insufficient for alkali denaturation. As exemplified with this patient, we recommend microchromatographic cation-exchange assay when Hb F exceeds 30% by densitometry. Here the effect of contamination by Hb A1 was lessened by the high proportion of Hb F. Cation-exchange microchromatography provides clinically relevant Hb F values more quickly than radial immunodiffusion and more conveniently than alkali denaturation.
J S
JS
Krauss
D A
DA
Hahn
M H
MH
Jonah
M
M
Trinh
D000015:Abnormalities, Multiple / Q000097:blood; D000741:Anemia, Aplastic / Q000097:blood*; D002675:Child, Preschool; D002846:Chromatography, Affinity; D004588:Electrophoresis, Cellulose Acetate; D005199:Fanconi Anemia / Q000097:blood*; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D006801:Humans; D007958:Leukocyte Count
D005319:Fetal Hemoglobin