Abstract: PS1062 Type: Poster Presentation Presentation during EHA23: On Saturday, June 16, 2018 from 17:30 - 19:00 Location: Poster area Background Diamond Blackfan anemia (DBA) is a rare genetic ribosomopathy charactherized with severe anemia related [library.ehaweb.org]

Sc lesions leukemia liver lungs ment Minot mitral stenosis murmur muscle myocardium node normal observed occur orifice pain paroxysmal pathological patients peripheral pernicious anemia platelets present pressure pulmonary artery purpura purpura hemorrhagica [books.google.es]

Case 1 Case 2 Case 3 Case 4 Case 5 Case 6 Age at presentation (mo) 7 8 10 18 7 10 Age of 1st symptom (mo) 2 2.5 2.5 3 4 2 Gender Male Male Male Female Female Male Pallor Present Present Present Present Present Present Congenital anomalies Absent Absent [indianpediatrics.net]

It commonly presents with congenital bony malformations (50% of the cases) and growth retardation (30% of cases).[3] The median age of presentation and diagnosis is 2 months of age.[2][3] Children usually first present with lethargy and pallor. [statpearls.com]

Diamond–Blackfan anemia Other names Blackfan-Diamond anemia, inherited pure red cell aplasia,[1] inherited erythroblastopenia[2] Specialty Hematology Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy.[3] [en.wikipedia.org]

• Hemophilia A

  […] coronary arteries cyanosis death defect diagnosis digitalis dilatation disorder doses ductus dyspnea edema electrocardiogram endocarditis enlarged erythrocytes etiology evidence factor fever frequently heart block heart disease hemo hemoglobin hemolysis hemophilia [books.google.es]

• Dysostosis

  Malformations are seen more frequently with DBA6 RPL5 and DBA7 RPL11 mutations.[5] The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis (MFD) phenotypes are heterogeneous, including [en.wikipedia.org]

• Fishing

  "As in human patients, blood development in our fish mutant was blocked at the pro-erythroblast stage," explains Zon. "But if we took out p53 and blocked cell death, red blood cells would appear. [medicalxpress.com]

  We also thank Dr Jonathan Fish for his critical review of the manuscript. [ahajournals.org]

• Fever

  […] clinical clot coagulation condition congenital congestive heart failure coronary arteries cyanosis death defect diagnosis digitalis dilatation disorder doses ductus dyspnea edema electrocardiogram endocarditis enlarged erythrocytes etiology evidence factor fever [books.google.es]

• Cyanosis

  […] insufficiency aortic valve appear Arch associated attacks auricle auricular fibrillation autopsy bleeding bone marrow cardiac cause cent changes chronic circulation clinical clot coagulation condition congenital congestive heart failure coronary arteries cyanosis [books.google.es]

• Heart Block

  block heart disease hemo hemoglobin hemolysis hemophilia hemorrhage hypertension hypertrophy idiopathic increased infection J. [books.google.es]

• Purpura

  Sc lesions leukemia liver lungs ment Minot mitral stenosis murmur muscle myocardium node normal observed occur orifice pain paroxysmal pathological patients peripheral pernicious anemia platelets present pressure pulmonary artery purpura purpura hemorrhagica [books.google.es]

Laboratory workup is significant for elevated MCV and erythrocyte adenosine deaminase (eADA). [statpearls.com]

It is therefore essential that DBA be considered in the workup of any infant presenting with anemia. We present the first known recorded case of DBA in South Africa. [jmedicalcasereports.biomedcentral.com]

Besides the patients who are on steroid treatment are also prone to hepatic iron laoding. [library.ehaweb.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]

Citation: A potential Diamond-Blackfan anemia treatment swims into view (2019, December 6) retrieved 27 April 2020 from This document is subject to copyright. [medicalxpress.com]

[…] pressure pulmonary artery purpura purpura hemorrhagica rare red cells reported result reticulocyte rheumatic rhythm right ventricle seen septum serum spleen stain symptoms syphilitic aortitis systolic tachycardia thrombosis tients tion tissue transfusion treatment [books.google.es]

Treatment[edit] Corticosteroids can be used to treat anemia in DBA. [en.wikipedia.org]

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]

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]

[…] respond to steroids or blood transfusions.[13] Complications Side-effects from long-term steroids and iron overload associated with repeated blood transfusions.[11] There is an increased risk of malignancies, including solid tumours and leukaemias.[6, 14] Prognosis [patient.info]

Prognosis is relatively good, but complications related to treatment may alter the patient's quality of life.[2] Severe complications as a result of treatment or the development of cancer may reduce life expectancy.[2] Disease severity is determined [statpearls.com]

[…] chronic circulation clinical clot coagulation condition congenital congestive heart failure coronary arteries cyanosis death defect diagnosis digitalis dilatation disorder doses ductus dyspnea edema electrocardiogram endocarditis enlarged erythrocytes etiology [books.google.es]

Detailed Description: Diamond Blackfan anemia (DBA) is a constitutional pure red cell aplasia of unknown etiology. There is laboratory evidence for an immune mechanism and most patients respond to corticosteroids. [clinicaltrials.gov]

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]

No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. [amjmed.com]

Iron deficiency anemia is the most common type of anemia worldwide in all the age groups.[1] However, here we talk about a rare type of anemia with genetic etiology. [statpearls.com]

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]

"The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond–Blackfan anemia". J. Pediatr. Hematol. Oncol. 23 (6): 377–82. doi:10.1097/00043426-200108000-00015. PMID 11563775. Saunders, E. [en.wikipedia.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]

This review will focus on the diagnosis of DBA along with a description of new advances in our understanding of the pathophysiology and treatment recommendations for DBA. [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]

[…] tumors 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]

Join our weekly wellness digest from the best health experts in the business Ellis SR; Nucleolar stress in Diamond Blackfan anemia pathophysiology. Biochim Biophys Acta. 2014 Jun1842(6):765-8. doi: 10.1016/j.bbadis.2013.12.013. Epub 2014 Jan 8. [patient.info]

Patients with DBA should be screened for iron loading as early as possible and chelation treatment should be initiated to prevent the related morbidity and mortalities. Session topic: 12. Bone marrow failure syndromes incl. [library.ehaweb.org]

MRI can be used as a non-invasive tool to recognize pituitary IOL and identification of proper chelation therapy for the prevention of irreversible pituitary tissue damage. [abstracts.eurospe.org]

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

How can Diamond-Blackfan anemia be prevented? As with most genetic diseases, there are no known methods to prevent the disease. [cancertherapyadvisor.com]

It is advised to carefully taper low maintenance doses to prevent overshooting the individual minimal effective dose. [onlinelibrary.wiley.com]