Diamond Blackfan Anaemia

Congenital hypoplastic anaemia. An autosomal recessive [MIM 205900], occasionally consanguineous condition associated with pure red cell aplasia of early infancy onset with anaemia, pallor, failure to thrive; 30% of patients have minor physical abnormalities—e.g., short stature, thumb deformities, ocular changes
Management Transfusion, corticosteroids, bone marrow transplantation, growth factor therapy
References in periodicals archive ?
The Feinstein Institute for Medical Research revealed on Tuesday the receipt of the National Institutes of Health (NIH) grant, valued at USD2.5m, to study improved treatment for erythropoietic disorders, including Diamond Blackfan anaemia.
Mutations in RPL5 and RPL11 are found in diseases such as Diamond Blackfan anaemia. However, a functional link between NF-kB and the 5S RNP has not been previously described.
Evie Campbell has diamond blackfan anaemia, a rare blood disorder which means the body does not produce its own red blood cells.
Evie Campbell has diamond blackfan anaemia (DBA) - a rare blood disorder that means the body doesn't produce its own red cells.
HALLCROFT Opticians in Shepshed is staging a special event next Monday (July 16) to raise money for The Diamond Blackfan Anaemia (DBA) charity.
Kieron, 12, from Bootle, was diagnosed with the rare bone marrow failure disorder Diamond Blackfan Anaemia (DBA) when he was just two.
Forty-year-old Dawn Cattermole has Diamond Blackfan Anaemia, a blood disease that has left her with osteoporosis and brittle bones, and so does her seven-year-old daughter, Emmey-Jo.
Samuel, who appeared on the ITV series, Kids With Cameras: Diary of a Children's Ward, has Diamond Blackfan Anaemia (DBA) - a rare blood condition whose sufferers fail to produce red blood cells properly.
Clinical and laboratory evidence for a tri lineage haematopoietic defect in patients with refractory Diamond Blackfan anaemia. Br J Haematol 2000; 108:167-75.
University of Huddersfield student Leigh Bowser is trying to highlight a rare blood condition called Diamond Blackfan Anaemia, as her young niece Chloe suffers from it.