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Molecular characterization of HbH disease in the Cuban population

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Summary

Molecular characterization of the α-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with α- and ζ-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the −α3.7 type I/--SEA genotype. Variations are observed in the size of the ζ polymorphic fragments.

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Authors and Affiliations

  1. Instituto Hematologia e Inmunologia, Apartado 8070, La Habana, Cuba

    Gisela Martinez, R. Ferreira & Ana Hernandez

  2. Istituto di Biologia Cellulare, C.N.R., Via G. D. Romagnosi 18/A, I-00196, Roma, Italy

    Anna Di Rienzo, L. Felicetti & B. Colombo

Authors
  1. Gisela Martinez
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  2. R. Ferreira
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  3. Ana Hernandez
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  4. Anna Di Rienzo
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  5. L. Felicetti
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  6. B. Colombo
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Martinez, G., Ferreira, R., Hernandez, A. et al. Molecular characterization of HbH disease in the Cuban population. Hum Genet 72, 318–319 (1986). https://doi.org/10.1007/BF00290956

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  • DOI: https://doi.org/10.1007/BF00290956

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