We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.
- Authors
Creasey, Thomas; Biss, Tina; Lambert, John; Smith, Frances; Clark, Barnaby; Carey, Peter
- Abstract
The article describes the case of a two-year-old boy who had a persistent productive cough and a six-month history of worsening pallor and lethargy. Several abnormalities were discovered through targeted genetic analysis, including an X-linked sideroblastic anaemia. A primary diagnosis of pyridoxine-sensitive X-linked sideroblastic anaemia was postulated.
- Subjects
ANEMIA in children; GENETIC disorders in children; VITAMIN B6; X chromosome abnormalities; BOYS; DISEASES
- Publication
British Journal of Haematology, 2018, Vol 180, Issue 1, p10
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.14909