[…] erythroid progenitors in the bone marrow (OMIM: Diamond-Blackfan Anemia 1) Predisposition to acute myelogenous leukemia, myelodysplastic syndrome and solid tumors Essential features Also known as Blackfan-Diamond anemia, congenital hypoplastic anemia [pathologyoutlines.com]

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American Journal Of Human Genetics. 2006 79(6):1110-8.17186470. Boria et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. [genedx.com]

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

Test Catalog Invitae Diamond-Blackfan Anemia Panel Test description The Invitae Diamond-Blackfan Anemia Panel analyzes genes associated with Diamond-Blackfan anemia (DBA). [invitae.com]

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

Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Pallor is isolated, without organomegaly, signs suggestive of hemolysis or involvement of other hematopoietic cell lines. [orpha.net]

All had severe pallor at presentation, with mild hepato-megaly and just palpable spleen in one child. Thumb anomaly was present in one of them. [indianpediatrics.net]

Presenting features in infants are pallor and dyspnea mainly whilst feeding or sucking. [cags.org.ae]

RPS26, RPS27, RPS29, RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A (Br J Haematol 2016;172:782) Diagrams / tables Images hosted on other servers: Hypothetic model for abortive ribosome assembly and p53 activation relevant to DBA Clinical features Pallor [pathologyoutlines.com]

Red blood cells carry oxygen throughout the body, so a child with DBA may have symptoms related to a deficit of blood oxygen (anemia), including: Pallor (paleness) Irregular heartbeat, due to the heart trying to keep oxygen moving throughout the body [verywellhealth.com]

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]

Congenital heart disease (CHD) in Diamond Blackfan anemia (DBA).A, The CHD anomalies in the Diamond Blackfan Anemia Registry (DBAR) included ventricular septal defect (VSD; 44%), atrial septal defect (ASD; 32.5%), coarctation of the aorta (CoA; 4.4%), [ahajournals.org]

ventricular septal defects, atrial septal defects, coarctation of the aorta, tetralogy of Fallot) and genitourinary track (e.g., absent kidney, horseshoe kidney and hypospadias). [cancertherapyadvisor.com]

Presenting features in infants are pallor and dyspnea mainly whilst feeding or sucking. [cags.org.ae]

Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Pallor is isolated, without organomegaly, signs suggestive of hemolysis or involvement of other hematopoietic cell lines. [orpha.net]

Congenital heart disease (CHD) is one of the most commonly occurring congenital anomalies in the general population. [ahajournals.org]

Increased prevalence of congenital heart disease in children with Diamond Blackfan anemia Suggests Unrecognized Diamond Blackfan anemia as a cause of congenital heart disease in the general population: A report of the Diamond Blackfan anemia registry. [rarediseases.org]

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry [f1000research.com]

[…] with recombinant Interleukin 3 (IL3), a stimulator of erythropoiesis at the stem cell level, has been studied very extensively in DBA in the past, but was eventually discarded due to conflicting results and undesired side effects, such as deep venous thrombosis [onlinelibrary.wiley.com]

Definition / general A member of the inherited bone marrow failure syndromes (BMFS); typically shows an onset in the first year of life (Br J Haematol 2016;172:782) Main features include normochromic macrocytic anemia, reticulocytopenia and nearly absent [pathologyoutlines.com]

The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. [malacards.org]

The disease is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent [uniprot.org]

Children with DBA will likely have a macrocytic anemia, normal neutrophils and platelets, a very low to absent reticulocyte count, elevated hemoglobin F and increased eADA activity. [cancertherapyadvisor.com]

RPL19 RPS29 Clinical description DBA is a congenital hematological condition that is characterized by macrocytic anemia, reticulocytopenia and normocellular bone marrow with a deficiency of red cell precursors. [invitae.com]

[…] criteria and three minor criteria A positive family history and three minor criteria Nonclassical DBA is diagnosed when there is a DBA associated gene mutation but insufficient diagnostic criteria Laboratory Macrocytic anemia with no other significant cytopenias [pathologyoutlines.com]

Over the next 2 years, she developed progressive fatigue and cytopenias. One month before presentation, a blood count showed a hemoglobin level of 5.6 g/dL, a platelet count of 91 103/μL, and a WBC count of 3.0 103/μL. [ascopubs.org]

In rare cases, aplastic anemia, multilineage cytopenia, or leukemia have been clinical features. [statpearls.com]

However, not all DBA patients present with severe anaemia at a very young age, and cytopenias in other lineages (and no signs of MDS/AML) have been described. [onlinelibrary.wiley.com]

All of them had macrocytic or normocytic anemia with reticulo-cytopenia, and bone marrow examination revealed marked erythroid hypoplasia. All of them were treated with oral steroids with a good response. [indianpediatrics.net]

Macrocytosis, elevated fetal hemoglobin and increased eADA. Physical abnormalities in about 40% of DBA cases including craniofacial and thumb abnormalities, atrial or ventrucular septal defects, short stature, mild retardation, etc. [atlasgeneticsoncology.org]

[…] with complete atrioventricular canal with double outlet right ventricle, respectively, were found to have elevated erythrocyte adenosine deaminase activity (range, 1.01–1.35 EU/gm Hb; normal, 0.33–0.96) characteristic of DBA.4 None of the patients had macrocytosis—a [ahajournals.org]

Features that support a diagnosis of DBA include the presence of congenital abnormalities, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells.[21] Most patients are diagnosed in the first two years of life [en.wikipedia.org]