Failure of microchromatographic measurement of fetal hemoglobin in β0 thalassemia - hereditary persistence of fetal hemoglobin

J. S. Krauss; M. H. Jonah; Lawrence D Devoe; C. G. Pantazis

Failure of microchromatographic measurement of fetal hemoglobin in β0 thalassemia - hereditary persistence of fetal hemoglobin

J. S. Krauss, M. H. Jonah, Lawrence D Devoe, C. G. Pantazis

Maternal/Fetal Medicine

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3 Scopus citations

Abstract

We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and β⁰ thalassemia minor. Southern blot technique confirmed heterozygous α₂ thalassemia and HPFH but failed to identify the β thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F₁ suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.

Original language	English (US)
Pages (from-to)	2325-2327
Number of pages	3
Journal	Clinical Chemistry
Volume	38
Issue number	11
State	Published - Dec 1 1992

ASJC Scopus subject areas

Clinical Biochemistry

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title = "Failure of microchromatographic measurement of fetal hemoglobin in β0 thalassemia - hereditary persistence of fetal hemoglobin",

abstract = "We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and β0 thalassemia minor. Southern blot technique confirmed heterozygous α2 thalassemia and HPFH but failed to identify the β thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F1 suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.",

author = "Krauss, {J. S.} and Jonah, {M. H.} and Devoe, {Lawrence D} and Pantazis, {C. G.}",

year = "1992",

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T1 - Failure of microchromatographic measurement of fetal hemoglobin in β0 thalassemia - hereditary persistence of fetal hemoglobin

AU - Krauss, J. S.

AU - Jonah, M. H.

AU - Devoe, Lawrence D

AU - Pantazis, C. G.

PY - 1992/12/1

Y1 - 1992/12/1

N2 - We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and β0 thalassemia minor. Southern blot technique confirmed heterozygous α2 thalassemia and HPFH but failed to identify the β thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F1 suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.

AB - We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and β0 thalassemia minor. Southern blot technique confirmed heterozygous α2 thalassemia and HPFH but failed to identify the β thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F1 suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.

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AN - SCOPUS:0026454937

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JO - Clinical Chemistry

JF - Clinical Chemistry

IS - 11

ER -

Failure of microchromatographic measurement of fetal hemoglobin in β0 thalassemia - hereditary persistence of fetal hemoglobin

Abstract

ASJC Scopus subject areas

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