Iron overload in inherited anaemias: why one size can't fit all
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Haematology"
DOI: 10.1111/bjh.17905
Abstract: For a small proportion of the UK population, life can only be sustained through regular transfusions of blood. Such is the reality for the ~600 people living with thalassaemia major and ~200–300 living with conditions… read more here.
Keywords: iron; iron overload; inherited anaemias; anaemia ... See more keywords
Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-111609
Abstract: The diagnosis of patients with inherited anemias is increasingly made in conjunction with high-throughput 'next-generation' sequencing (NGS) analysis, largely using targeted resequencing panels validated for clinical use in diagnostic labs. While there is a joint… read more here.
Keywords: quality; inherited anaemias; rare inherited; next generation ... See more keywords