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]

Anemia usually presents in infancy or early childhood and greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk is, as of yet, undetermined. [clinicaltrials.gov]

Although the anemia can present at any age, the median age of diagnosis is 12 weeks of age, with 90% of patients presenting with anemia within the first year [9]. [jmedicalcasereports.biomedcentral.com]

Diagnosis The average age of presenting with anemia is two months and the average age of diagnosis with DBA is 3-4 months. [rarediseases.org]

Diamond Blackfan anemia treatment: past, present, and future., Semin Hematol, 2011, vol. 48 2 (pg. 117 - 123 ) 15, ,,. [ashpublications.org]

• Short Stature

  In some cases there is also short stature .[2] Diamond-Blackfan anemia is caused by mutations in several genes, some of which have been identified and some of which have not. [rarediseases.info.nih.gov]

  Abstract Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has [pubmed.ncbi.nlm.nih.gov]

  About one-third of affected individuals have slow growth leading to short stature. [medlineplus.gov]

  The neck may be short due to fused vertebrae and shoulder blades may be prominent. About one-third of affected individuals have slow growth leading to short stature. [rarediseases.org]

  Physical abnormalities are present in 50% of cases.[2][3] The most common congenital physical abnormalities are the thumb and upper extremity malformations, craniofacial anomalies, and short stature. [statpearls.com]

• Small Head

  Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells .[1] Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly [rarediseases.info.nih.gov]

  Some children born with DBA also have physical effects to their face and body, such as: A small head Wide eyes and a flat nose Small, low ears Small bottom jaw Short, webbed neck Small shoulder blades Abnormal thumbs Cleft palate or lip Other symptoms [webmd.com]

  They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small [medlineplus.gov]

  Approximately one-half of those affected have physical abnormalities, such as small head size; wide-set eyes; flat nose; small, low-set ears; small bottom jaw; recessed or small chin; cleft palate (an opening in the roof of the mouth with or without a [rarediseases.org]

• Hypertelorism

  They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small [medlineplus.gov]

• Lethargy

  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]

  Her parents reported a 1-day history of lethargy, poor feeding, shortness of breath, and irritability on a background history of progressive pallor. There was no family history of note. [jmedicalcasereports.biomedcentral.com]

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]

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]

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]

Treatments Children diagnosed with DBA are able to live long lives with medical treatment. And some go into complete remission, meaning the symptoms disappear for a time. [webmd.com]

Familiarization with international treatment guidelines is important in the treatment of rare diseases but local guidelines need to be established. [jmedicalcasereports.biomedcentral.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]

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond- Blackfan anemia patients. Pediatr Res, 46 (1999), pp. 553-561 [15.] T.N. Willig, H. Gazda, C.A. Sieff. Diamond-Blackfan anemia. [elsevier.es]

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]

56 Costa LD...Tchernia G 12406103 2002 24 Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. 56 Gazda H...Sieff CA 11264183 2001 25 Identification of new prognosis factors from the clinical [malacards.org]

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. [ashpublications.org]

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]

[…] and interleukin 3: sustained remissions following IL-3. 56 Dunbar CE...Young NS 1958491 1991 42 Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. 56 Viskochil DH...Christensen RD 2309764 1990 43 Diamond-blackfan anemia: etiology [malacards.org]

[…] input auto suggest search filter Key Points PS can be overlooked in the differential diagnosis of children with severe congenital anemia. mtDNA deletion testing should be included in the genetic evaluation of patients with congenital anemia of unclear etiology [ashpublications.org]

Numerous theories regarding the etiology of DBA have been proposed. Traditionally, DBA was considered a ribosomopathy caused by genetic mutations in one of 19 ribosomal proteins affecting ribosome synthesis. [jmedicalcasereports.biomedcentral.com]

The Diamond-Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan Anemia. J Pediatr Hematol Oncol, 23 (2001), pp. 377-382 [14.] T.N. Willig, C.M. Niemeyer, T. Leblanc, C. Tiemann, A. Robert, J. [elsevier.es]

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]

Costa LD...Tchernia G 12406103 2002 24 Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. 56 Gazda H...Sieff CA 11264183 2001 25 Identification of new prognosis factors from the clinical and epidemiologic [malacards.org]

'[2] Up to 50% of DBA cases have a heterozygous mutation of the ribosomal gene with loss of function.[2] Epidemiology Diamond Blackfan anemia is a very rare disease with an incidence rate of 1 in 500000 live births. [statpearls.com]

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. [ashpublications.org]

[…] contribution to haematology. 56 Mentzer WC 14616996 2003 22 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology [malacards.org]

Neonatology: Pathophysiology and management of the newborn, pp. 952-999 [6.] Cloherty, C. Dame, S.E. Juul. El cambio desde eritropoyesis fetal hacia la del adulto. Hematología neonatal. Clin Perinatol, 27 (2000), pp. 497-518 [7.] R.K. Ohls. [elsevier.es]

[…] ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology [pubmed.ncbi.nlm.nih.gov]

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]

“At Boston Children’s, we excel at this, and with the new knowledge of the importance of GATA1 as a downstream integrator of DBA’s pathophysiology, we can now approach treating this disease in an effective and efficient manner.” [vector.childrenshospital.org]

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

Planned iron chelation therapy to prevent transfusional hemosiderosis will be delayed until approximately 170–200 ml/kg of transfused red packed cells has been given. A planned trial of corticosteroids will be given at 1 year of age. [jmedicalcasereports.biomedcentral.com]