Definition Protein which, if defective, causes Diamond-Blackfan anemia, a rare congenital non-regenerative hypoplastic anemia that usually presents early in infancy. [uniprot.org]

Importantly, DBA usually presents as a pure red cell aplasia with a severe often macrocytic anemia, but normal platelet and leukocyte counts. Although DBA can present at any age, 90% of patients present during the first year of life. [cancertherapyadvisor.com]

Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. [orpha.net]

“In patients, there are often clues that a bone marrow failure syndrome is present, including dysmorphic features and failure of cytopenias to improve over time,” Dr Cuvelier said. [hematologyadvisor.com]

Case presentation and history. A 42-day-old female infant who was born at 37 weeks gestation presented at an outside medical center for evaluation of anemia. [captodayonline.com]

Canada, told Hematology Advisor, “Inherited bone marrow failure syndromes such as Diamond-Blackfan anemia are rare, but [it is] important for general practitioners such as family doctors and pediatricians to have some understanding [of] the diagnostic workup [hematologyadvisor.com]

As part of the diagnostic workup, morphologic evaluation of the peripheral blood smear and bone marrow aspirate, flow cytometry, and cytogenetic analysis were performed. [captodayonline.com]

If an increasing trend in ferritin levels is noted, then compliance is questioned and further workup to assess the iron overload is warranted. [bloodjournal.org]

Antithymocyte globulin with or without cyclosporin A: 11-year follow-up of a randomized trial comparing treatments of aplastic anemia. Blood. 2003 Feb 15. 101(4):1236-42. [Medline]. [medscape.com]

"Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia." British Journal of Haematology 159(5): 514-527. Created by: Katie L. Bergstrom, MS, CGC Edited by: Karin Dent, MS, LCGC [my46.org]

Inheritance is typically autosomal dominant, but can rarely be X-linked. [3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation. [1] The severity of the disease is very varied. [rarediseases.info.nih.gov]

Treatment of DBA Here are some of the most common treatments for this anemia: Steroids. These are strong drugs that fight inflammation in the body. [stanfordchildrens.org]

[…] service, product or treatment in your circumstances. [leukaemia.org.au]

Prognosis The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce life expectancy. Disease severity depends on the quality and response to treatment. [orpha.net]

Regulatory T cells and CD20 B cells in pediatric very severe aplastic anemia: possible clinical markers for evaluating the therapeutic efficacy and prognosis. Hematology. 2018 Jul 11. 1-5. [Medline]. Brodsky RA. Acquired Aplastic Anemia. [medscape.com]

Furthermore, clinicians require an accurate knowledge of the clinical and laboratory presentation, mode of inheritance, treatment response, outcomes and prognosis to make important diagnostic treatment and reproductive decisions. [clinicaltrials.gov]

What is the prognosis of DBA? DBA is a potentially life-threatening condition that can cause severe anaemia. Symptoms of DBA need to be managed by an experienced haematologist. There is a risk that DBA can transform to leukaemia in some cases. [leukaemia.org.au]

Diamond-Blackfan Anemia ) Increased red cell mean corpuscular volume (MCV) Reticulocytopenia Elevated erythrocyte adenosine deaminase activity (eADA) (observed in 80% - 85%) Elevated hemoglobin F (HbF) concentration Prognostic factors Associated with unfavorable prognosis [pathologyoutlines.com]

While mutations in ribosomal protein genes are found linked to DBA, underlying etiologies are unresolved in 1/3 of all patients. [erare.eu]

Etiology At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs) from either the small ( RPS7, RPS17, RPS19, RPS24 ) or the large ( RPL5, RPL11, RPL35a ) ribosomal subunit. [orpha.net]

As the infant had no signs of hemolysis, and the clinical picture was consistent with a compensated anemia, the presence of infectious etiologies or structural abnormalities was evaluated. [captodayonline.com]

The Drug Etiology of Agranulocytosis and Aplastic Anemia. New York: Oxford University Press; 1991. Issaragrisil S, Sriratanasatavorn C, Piankijagum A, Vannasaeng S, Porapakkham Y, Leaverton PE, et al. Incidence of aplastic anemia in Bangkok. [medscape.com]

The etiology of short stature is multifactorial and complex and may be the result of the disease itself, chronic anemia, the result of chronic steroid therapy starting at an early age or severe transfusion-acquired iron overload, leading to growth hormone [bloodjournal.org]

OUR MISSION STATEMENT The mission of the DBAR is to be an essential tool for the investigation of the epidemiology and biology of DBA and the conduct of therapeutic trials. Director Adrianna Vlachos, MD Co-Director Jeffrey M. [dbar.org]

DESIGN NARRATIVE: The objective of this study is to expand and update the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia; 2) provide an accurate phenotype of DBA patients to facilitate genotype [clinicaltrials.gov]

Summary Epidemiology Annual incidence in the general population of Europe is estimated at around 1/150,000. Both sexes are equally affected and no ethnic predisposition has been identified. [orpha.net]

[…] macrocytic anemia, reticulocytopenia, normocellular for age marrow and nearly absent erythroid progenitors in the bone marrow ( OMIM: Diamond-Blackfan Anemia 1 ) Predisposition to acute myelogenous leukemia, myelodysplastic syndrome and solid tumors Epidemiology [pathologyoutlines.com]

PMID 17151020 The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. [atlasgeneticsoncology.org]

Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review. Eur J Haematol. 2015 Sep. 95 (3):190-8. [Medline]. Brodsky RA, Mukhina GL, Li S, Nelson KL, Chiurazzi PL, Buckley JT, et al. [medscape.com]

Autophagy and cell metabolism have also been shown to be important in DBA pathophysiology 80, 81. [f1000research.com]

Shimamura A, Alter BP : Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24: 101 - 122, 2010 Crossref, Google Scholar 20. [ascopubs.org]

Epidemiology Incidence 1:100,000 1:200,000 live births and remains consistent across ethnicities ( GeneReviews: Diamond-Blackfan Anemia ) Males and females equally affected 90% diagnosed within first year of life and 35% diagnosed within first month Pathophysiology [pathologyoutlines.com]

“Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry”. Pediatr Blood Cancer. vol. 46. 2006. pp. 558-564. [cancertherapyadvisor.com]

Treatment may include iron chelation drugs that remove iron from the blood to prevent complications. [stanfordchildrens.org]

Other oral agents, such as dapsone or atovaquone, may be used. 30 There have been deaths resulting from Pneumocystis pneumonia in young patients reported to the DBAR, and these are largely preventable with adequate prophylaxis. [bloodjournal.org]