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Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family

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Summary

We have analyzed the levels and composition of the fetal hemoglobin (Hb F) in several members of a Czechoslovakian family with a heterozygosity for a newly discovered β∘-thalassemia (codons 38/39; -C), or for a newly detected nondeletional hereditary persistence of fetal hemoglobin (a form of Swiss-HPFH with an A→C mutation at nucleotide −100 5′ to the Cap site of Gγ), or with a compound heterozygosity for these two conditions. The Hb F level in the β∘-thalassemia heterozygotes averaged ∼ 0.3% with low Gγ values (∼ 28%) and relatively high AγT values (∼ 50%), that in the two Swiss-HPFH heterozygotes averaged 0.8% with ∼95% Gγ, while that of the compound heterozygote was 3.1% with ∼ 95% Gγ. The low Hb F levels were determined with a recently published cation exchange high-performance liquid chromatography (HPLC) procedure that is accurate at the 0.1%–0.2% Hb F level [3]. This method, together with a reversed-phase HPLC procedure, made it possible to detect this unusual type of nondeletional Gγ-HPFH and provided the data indicating that the increased Hb F in the compound heterozygote was derived mainly from the chromosome with the HPFH determinant.

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Authors and Affiliations

  1. Department of Biochemistry and Molecular Biology, Medical College of Georgia, 30912-2100, Augusta, GA, USA

    K. Indrak, J. Indrakova, F. Kutlar, E. Baysal & T. H. J. Huisman

  2. Department of Clinical Haematology, Faculty Hospital, Olomouc, Czechoslovakia

    K. Indrak, D. Pospisilova & I. Sulovska

  3. Department of Pathology, Medical Faculty, University Palackianae, Olomouc, Czechoslovakia

    J. Indrakova

Authors
  1. K. Indrak
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  2. J. Indrakova
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  3. F. Kutlar
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  4. D. Pospisilova
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  5. I. Sulovska
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  6. E. Baysal
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  7. T. H. J. Huisman
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This study was supported in part by USPHS Research Grant HLB-41544

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Indrak, K., Indrakova, J., Kutlar, F. et al. Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family. Ann Hematol 63, 111–115 (1991). https://doi.org/10.1007/BF01707283

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  • DOI: https://doi.org/10.1007/BF01707283

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