Fetal hemoglobin in normal adults and β-thalassemia heterozygotes

Abdullah Kutlar, Ferdane Kutlar, Li Ghao Gu, Sylvia M. Mayson, Titus H.J. Huisman

Research output: Contribution to journalArticle

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Abstract

A recently developed high performance liquid chromatographic (HPLC) procedure using a weak cation exchanger (PolyCAT) in columns of different sizes was used to quantify fetal hemoglobin (Hb F) in blood of normal adults and β-thalassemia (β-thal) heterozygotes with ten different types of mutations. Preparative PolyCATHPLC greatly facilitated the characterization of isolated Hb F, i.e., the determination of the relative quantities of the Gγ and Aγ chains. The method is accurate and allows quantitation of Hb F at the 0.5% level; preparative PolyCAT-HPLC allows isolation of (nearly) pure Hb F from blood samples with low (< 1%) Hb F. Adult Hb F levels were determined in 69 normal adults (including 24 diabetics); Hb F levels fell below 1% except for subjects with abnormal -Gγ-Gγ arrangement and a C→T mutation at position -158 relative to the Cap site of both Gγ genes. The effect of the same mutation in the normal-Gγ-Aγ-arrangement was variable. Certain β-thal mutations (namely, those at positions -29;-88; IVS-I-1; IVS-II-1) were associated with high Hb F levels in heterozygotes, while those at nucleotide (nt) positions IVS-I-6; IVS-I-110; codon 24; codon 39; codons 41/42; IVS-II-745 were not. Gγ values varied and often fell into two groups (high Gγ and low Gγ); high values were not associated with high Hb F values. The chromatographic procedure is ideally suited for Hb A2 quantitation. Average values of Hb A2 in β-thal heterozygotes with any one of nine of the ten mutations were twice that of normals; the one exception was the β-thal heterozygote with the IVS-I-6 (T→C) mutation with an average low Hb A2 value of 3.6%.

Original languageEnglish (US)
Pages (from-to)106-110
Number of pages5
JournalHuman Genetics
Volume85
Issue number1
DOIs
StatePublished - Jun 1 1990

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Fetal Hemoglobin
Thalassemia
Heterozygote
Mutation
Codon
Cations
Nucleotides
Genes
hemoglobin A2'

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kutlar, A., Kutlar, F., Gu, L. G., Mayson, S. M., & Huisman, T. H. J. (1990). Fetal hemoglobin in normal adults and β-thalassemia heterozygotes. Human Genetics, 85(1), 106-110. https://doi.org/10.1007/BF00276333

Fetal hemoglobin in normal adults and β-thalassemia heterozygotes. / Kutlar, Abdullah; Kutlar, Ferdane; Gu, Li Ghao; Mayson, Sylvia M.; Huisman, Titus H.J.

In: Human Genetics, Vol. 85, No. 1, 01.06.1990, p. 106-110.

Research output: Contribution to journalArticle

Kutlar, A, Kutlar, F, Gu, LG, Mayson, SM & Huisman, THJ 1990, 'Fetal hemoglobin in normal adults and β-thalassemia heterozygotes', Human Genetics, vol. 85, no. 1, pp. 106-110. https://doi.org/10.1007/BF00276333
Kutlar, Abdullah ; Kutlar, Ferdane ; Gu, Li Ghao ; Mayson, Sylvia M. ; Huisman, Titus H.J. / Fetal hemoglobin in normal adults and β-thalassemia heterozygotes. In: Human Genetics. 1990 ; Vol. 85, No. 1. pp. 106-110.
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