Molecular identification of Sicilian (deltabeta) degrees-thalassemia associated with beta-thalassemia and hemoglobin S in Brazil

Braz J Med Biol Res. 2002 Aug;35(8):873-6. doi: 10.1590/s0100-879x2002000800003.


We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltabeta) degrees -thalassemia with hemoglobin S and beta-thalassemia. Direct sequencing of the beta-globin gene showed only the hemoglobin S mutation in patient 1 and the beta-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltabeta) degrees -thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltabeta) degrees -thalassemia association and patient 2 is the first reported case of Sicilian type of (deltabeta) degrees -thalassemia in association with beta-thalassemia documented at the molecular level.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Brazil
  • DNA Mutational Analysis
  • Female
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*


  • Hemoglobin, Sickle