Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis

Br J Haematol. 2018 Jan;180(1):10. doi: 10.1111/bjh.14909. Epub 2017 Nov 5.

Authors

Thomas Creasey¹, Tina Biss¹, John Lambert¹, Frances Smith², Barnaby Clark², Peter Carey¹

Affiliations

¹ Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
² Viapath, King's College Hospital NHS Foundation Trust, Denmark Hill, London, UK.

PMID: 29105823
DOI: 10.1111/bjh.14909

No abstract available

Publication types

Case Reports

MeSH terms

5-Aminolevulinate Synthetase / genetics
Alleles
Anemia, Sideroblastic / diagnosis*
Anemia, Sideroblastic / drug therapy
Anemia, Sideroblastic / genetics*
Child, Preschool
Erythrocytes / pathology*
Genes, X-Linked
Genetic Association Studies*
Genetic Predisposition to Disease*
Humans
Male
Mutation
Pyridoxine / pharmacology
Pyridoxine / therapeutic use

Substances

5-Aminolevulinate Synthetase
ALAS2 protein, human
Pyridoxine