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Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

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Summary

We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the α-globin cluster and digestion with Mae I of the in vitro amplified 5′ segment of theβ-globin gene shows a combination of triplicatedα globin locus, anti-3.7 kb type, with heterozygous codon 39 C → Tβ 0 thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion:a single extra α-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severeβ + orβ 0 thalassemic mutation.

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Abbreviations

PCR:

polymerase chain reaction

IVS:

intervening sequence

CD:

codon

Hb:

hemoglobin

thal:

thalassemia

MCV:

mean corpuscular volume

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Authors and Affiliations

  1. Abteilung Hämatologie, Universitäts-Spital Genf, Genf, Schweiz

    Ph. Beris, R. Darbellay & A. Hochmann

  2. Abteilung Innere Medizin, Fribourg, Kantons-Spital, Fribourg, Schweiz

    E. Pradervand & P. Pugin

  3. Division d'Hematologie, Hôpital Cantonal Universitaire de Genève, CH-1211, Genève 4, Switzerland

    Ph. Beris

Authors
  1. Ph. Beris
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  2. R. Darbellay
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  3. A. Hochmann
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  4. E. Pradervand
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  5. P. Pugin
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Beris, P., Darbellay, R., Hochmann, A. et al. Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family. Klin Wochenschr 69, 710–714 (1991). https://doi.org/10.1007/BF01649440

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  • DOI: https://doi.org/10.1007/BF01649440

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