Abstract
Diamond-Blackfan anaemia (DBA) is a rare inherited marrow failure disorder, characterized by hypoplastic anaemia, congenital anomalies and a predisposition to cancer as a result of ribosomal dysfunction. Historically, treatment is based on glucocorticoids and/or blood transfusions, which is accompanied by significant toxicity and long-term sequelae. Currently, stem cell transplantation is the only curative option for the haematological DBA phenotype. Whereas this procedure has been quite successful in the last decade in selected patients, novel therapies and biological insights are still warranted to improve clinical care for all DBA patients. In addition to paediatric haematologists, other physicians (e.g. endocrinologist, gynaecologist) should ideally be involved in the care of this chronic condition from an early age, to improve lifelong management of haematological and non-haematological symptoms, and screen for DBA-associated malignancies. Here we provide an overview of current knowledge and recommendations for the day-to-day care of DBA patients.
| Original language | English |
|---|---|
| Pages (from-to) | 123-133 |
| Number of pages | 11 |
| Journal | British Journal of Haematology |
| Volume | 184 |
| Issue number | 2 |
| Early online date | 4 Dec 2018 |
| DOIs | |
| Publication status | Published - Jan 2019 |
Keywords
- Diamond-Blackfan anaemia
- HSCT
- cancer screening
- hypoplastic anaemia
- marrow failure disorder
- Humans
- Child, Preschool
- Hematopoietic Stem Cell Transplantation
- Infant
- Male
- Glucocorticoids/therapeutic use
- Anemia, Diamond-Blackfan/metabolism
- Allografts
- Blood Transfusion
- Adolescent
- Female
- Child
- Infant, Newborn