[Molecular characteristics of the thalassemia syndrome and prenatal diagnosis in a high risk family].

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  • Additional Information
    • Transliterated Title:
      Molekularna osnova sindroma talasemije i dijagnostika kod deteta pre rodjenja u porodici s visokim rizikom.
    • Source:
      Publisher: Srpski Lekarski Drustvo Country of Publication: Serbia NLM ID: 0027440 Publication Model: Print Cited Medium: Print ISSN: 0370-8179 (Print) Linking ISSN: 03708179 NLM ISO Abbreviation: Srp Arh Celok Lek Subsets: MEDLINE
    • Publication Information:
      Publication: Beograd : Srpski Lekarski Drustvo
      Original Publication: Belgrade.
    • Subject Terms:
      Prenatal Diagnosis*; beta-Thalassemia/*diagnosis; Female ; Globins/genetics ; Hemoglobins, Abnormal/genetics ; Heterozygote ; Humans ; Infant ; Male ; Mutation ; Polymerase Chain Reaction ; beta-Thalassemia/genetics
    • Abstract:
      The diagnosis of thalassaemia maior has been established in a 6 months old infant by screenig tests. The sick child and his parents were included in the study. Reverse dote blot and allelle-specific PCR confirmed that the mother was heterozygous for mutation in the first intone of beta-globin chain at position 110-beta-IVSI-110. By gap-PCR it was established that the father was heterozygous for haemoglobinopathy Lepore. The child was double heterozygous for both mutations. During the next pregnancy, in the 11th week, faetal DNA was extracted from chorion villous. Fetus was heterozygous for haemoglobinopathy Lepore and carried the same mutation as the father. The parents the accepted information that the second child will be a silent carrier of mutation.
    • Accession Number:
      0 (Hemoglobins, Abnormal)
      9004-22-2 (Globins)
      9062-66-2 (hemoglobin Lepore)
    • Publication Date:
      Date Created: 20050111 Date Completed: 20050222 Latest Revision: 20091111
    • Publication Date:
      20221213
    • Accession Number:
      15637993