Work

Acquired Pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients

Year: 2003

Type: article

Abstract: 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.

Source: British Journal of Haematology

DOI: 10.1046/j.1365-2141.2003.04484.x

Authors: Naomi Hamlin, Konstanze Beck, Barbara Bacchelli, Paolo Cianciulli, Ivonne Pasquali‐Ronchetti, Olivier Le Saux

Institutions: University of Hawaiʻi at Mānoa, University of Hawaii System, University of Modena and Reggio Emilia, St. Eugenio Hospital

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Ministero dell’Istruzione, dell’Università e della Ricerca, National Institutes of Health, National Center for Research Resources