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Diamond-Blackfan Anemia Type 4
Diamond-Blackfan Anemia 4

Presentation

Definition A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. [uniprot.org]

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]

Furthermore, although the primary presentation is isolated anemia, as life expectancy has improved, progressive defects in other lineages have now been identified, consistent with a long-term stem cell defect. [clinicaltrials.gov]

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]

Gastrointestinal

  • Increased Appetite

    Increased appetite and weight gain. Lower resistance to infection. Ulcers. Cataracts or glaucoma. [my.clevelandclinic.org]

Cardiovascular

  • Cardiomegaly

    People with Diamond-Blackman anemia may develop enlarged hearts ( cardiomegaly) Ophthalmologist: Diamond-Blackman anemia may cause vision problems. Ophthalmologists are providers who specialize in diagnosing and treating eye disease. [my.clevelandclinic.org]

Workup

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]

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

Treatment

What are treatment complications or side effects? Corticosteroid treatment and blood transfusions are typically very safe treatments but they may cause some side effects. [my.clevelandclinic.org]

Standard Therapies Treatment When the patient presents with anemia, the usual initial treatment includes a red cell transfusion. If available, transfusions are usually the mainstay of treatment for the first year of life for the anemia of DBA. [rarediseases.org]

Treatment may include medicines, blood transfusions, and bone marrow transplant. DBA was once thought of as a children’s disease. But with more successful treatments, many children survive well into adulthood. [stanfordchildrens.org]

Prognosis

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]

Outlook / Prognosis How long can you live with Diamond-Blackfan anemia? Diamond-Blackfan anemia affects people in many different ways, making it difficult for healthcare providers to offer a prognosis. [my.clevelandclinic.org]

Prognosis: there are no genotype–phenotype correlations that are predictive of prognosis, that is, response to corticosteroid therapy, likelihood of remission, cancer predisposition (occurrence or type of cancer) or life expectancy. [nature.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]

Etiology

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]

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]

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]

Epidemiology

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

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]

“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]

Nucleolar stress in Diamond Blackfan anemia pathophysiology. Biochim Biophys Acta. 2014 Jun;1842(6):765-8. doi: 10.1016/j.bbadis.2013.12.013. Epub 2014 Jan 8. Review. Citation on PubMed Farrar JE, Dahl N. [medlineplus.gov]

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]

Prevention

Diamond-Blackfan anemia (DBA) is a very rare blood disorder that affects people’s bone marrow, preventing bone marrow from producing enough red blood cells. People rely on red blood cells to carry oxygen throughout their bodies. [my.clevelandclinic.org]

A regular check of Hb levels may be recommended. 3.2.1 Will the result of a genetic test influence lifestyle and prevention? If the test result is positive (please describe): Yes. [nature.com]

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

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

It can be diagnosed by the simple criteria and hematological tests which can help the patient attain a better quality of life and prevent the occurrence of tumors, organ failures, etc. Corticosteroids are the mainstay of treatment for DBA. [statpearls.com]

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