Estimation of highly increased concentrations of fetal hemoglobin in Fanconi's anemia.

Abstract:

: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.

journal_name

Clin Chem

journal_title

Clinical chemistry

authors

Krauss JS,Hahn DA,Jonah MH,Trinh M

subject

Has Abstract

pub_date

1985-10-01 00:00:00

pages

1737-8

issue

10

eissn

0009-9147

issn

1530-8561

journal_volume

31

pub_type

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