Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients

Br J Haematol. 2003 Sep;122(5):852-4. doi: 10.1046/j.1365-2141.2003.04484.x.


A significant number of patients diagnosed with beta-thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene and is characterized by mineralized elastic fibres in dermal, vascular and ocular tissues. As no disease-causing variant was found in the ABCC6 gene of 10 beta-thalassaemia patients with a PXE-like phenotype, the present study suggests that the PXE-like symptoms in these beta-thalassaemic patients are not related to ABCC6 mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Pseudoxanthoma Elasticum / genetics*
  • beta-Thalassemia / genetics*


  • ATP-Binding Cassette Transporters