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Diamond-Blackfan Anemia

Blackfan-Diamond Anemia

Diamond-Blackfan anemia is a rare form of anemia that is often accompanied by several physical anomalies. Blood workup may reveal a lack of production of red blood cells, however, other cell lines remain normal.


Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome that usually presents in the first few years of life [1]. Less than a quarter of cases are familial, following an autosomal dominant pattern [2]. The majority of cases are sporadic mutations that can then be passed down to offspring.

DBA is thought to arise from a disturbance in ribosome formation, coded for by the ribosomal protein S19 (RPS19) gene [3]. It is mainly defined by a hypoplastic, macrocytic anemia that may be accompanied by various congenital abnormalities [4]. The white cell and platelet counts typically remain within, or just below, normal ranges [5].

DBA often presents with severe anemia in infancy or childhood, which may be fatal [6]. Newborns may have a low birth weight, followed by growth retardation. Outward signs of disease are pallor, especially while feeding, and shortness of breath. There is usually no associated organomegaly.

It is estimated that half of the children affected by DBA also exhibit physical abnormalities. The craniofacial features of DBA are the most commonly occurring abnormalities, some of which are hypertelorism, microcephaly, microtia, cleft palate, and a flattened nasal bridge. Pierre-Robin syndrome, congenital glaucoma, and cataracts have also been described.

Musculoskeletal features include short stature, webbed neck, and upper limb deformities such as triphalangeal thumbs, and complete absence of the radius or forearm. Puberty may be delayed, however, the rest of the developmental history is normal. In contrast, intellectual disability is not a part of the syndrome. Other systems that are characteristically disturbed are the urogenital and cardiovascular systems [4]. This results in conditions such as hypospadias, horseshoe kidneys, ventricular septal defect, atrial septal defect, and coarctation of the aorta.

In addition to the above, children with DBA have a higher risk of developing leukemia and various solid tumors, exemplified by acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and osteosarcoma [7].

Less severe, non-classic forms of the disease do occur, characterized by mild anemia (if present), asymptomatic macrocytosis, high HbF (fetal hemoglobin) and isolated physical abnormalities.

Inguinal Hernia
  • Physical abnormalities were limited to a prominent pectus excavatum and inguinal hernia. The anemia was also responsive to treatment with steroids.[doi.org]
  • In contrast, intellectual disability is not a part of the syndrome. Other systems that are characteristically disturbed are the urogenital and cardiovascular systems.[symptoma.com]
Increased Appetite
  • Though we cannot exclude the possibility of spontaneous remission, our previous in vitro results favor the leucine-effect explanation. 3 Moreover, three other DBA patients that have recently started leucine therapy show increased appetite, growth and[doi.org]
Aphthous Ulceration
  • The major clinical problem during treatment has been recurrent oral aphthous ulceration, which responds to topical therapy. She is currently maintained on CSA 100 mg twice daily with a hemoglobin of 10.2 g/dL and a reticulocyte count of 1.6%.[ncbi.nlm.nih.gov]
  • We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling[ncbi.nlm.nih.gov]
Mouth Breathing
  • We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling[ncbi.nlm.nih.gov]
  • Hemoglobin scavenger receptor CD163 mediates interleukin-10 release and heme oxygenase-1 synthesis antiinflammatory monocyte-macrophage responses in vitro, in resolving skin blisters in vivo, and after cardiopulmonary bypass surgery. Circ.[nature.com]
  • After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.[ncbi.nlm.nih.gov]


The diagnosis of Diamond-Blackfan anemia can be made based on family history, prenatal genetic testing in cases of known mutations, as well as a raised erythrocyte adenosine deaminase (EAD) [8].

Further laboratory tests include:

  • Complete blood count: A raised mean cell volume (MCV) may be present, with a normal white cell and platelet count, and a low percentage of reticulocyte count.
  • Peripheral blood smear: This may show normochromic, macrocytic red blood cells.
  • Bone marrow aspirate: This test is used to confirm the absence of red cell production in the bone marrow (erythroblastopenia). Furthermore, samples are tested for parvovirus B19, which can cause bone marrow suppression.
  • Radiological: The skeletal deformities can be easily observed through various radiological means.
  • Cardiac and renal function monitoring are also indicated.


  • GH-treated patients had significantly lower HAZ prior to treatment initiation compared to non-GH-treated controls. Among GH-treated patients, GV significantly improved in the first two years relative to pre-treatment.[ncbi.nlm.nih.gov]


  • 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]
  • The prognosis depends upon response to treatment with patients responsive to non-toxic doses of corticosteroids having a better prognosis than transfusion-dependent patients.[tandfonline.com]
  • He is Coordinator of the International Working Group for Prognosis in MDS (IWG-PM) which generated the revised MDS classification system (the IPSS-R) and is now evaluating the impact of molecular mutations on this risk-based prognostic system.[med.stanford.edu]
  • 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]


  • Diamond-Blackfan anemia (DBA) is a rare etiology for congenital anemia, but this diagnosis should be considered when aregenerative hypoplastic anemia occurs in infancy.[ncbi.nlm.nih.gov]


  • The Diamond Blackfan Anemia Registry of North America (DBAR) is designed to overcome these disadvantages to study the epidemiology and biology of DBA.[ncbi.nlm.nih.gov]
  • 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]
Sex distribution
Age distribution


  • A major problem in understanding the pathophysiological mechanisms in DBA remains the lack of a suitable animal model.[ncbi.nlm.nih.gov]


  • Gov't MeSH terms Anemia, Aplastic Anemia, Diamond-Blackfan/genetics Anemia, Diamond-Blackfan/pathology Anemia, Diamond-Blackfan/prevention & control* Animals Bone Marrow Diseases Disease Models, Animal* Genetic Therapy* Genetic Vectors/administration[ncbi.nlm.nih.gov]
  • Indeed, we showed that the diverse mutations affecting RPS19, the most frequently mutated ribosomal protein in DBA, prevent incorporation of the RPS19 into ribosomes, which affects ribosome biogenesis in patients.[anr.fr]
  • This work is or has been supported by grants from the National Heart Lung and Blood Institute (R01HL079571, R109MOHLKE), the Centers for Disease Control and Prevention, the Pediatric Cancer Foundation, the Diamond Blackfan Anemia Foundation and the Daniella[tandfonline.com]
  • Prevention of Secondary Complications Individuals need to be assessed for iron overload in order to begin iron chelation therapy. Measurements for iron overload include: Serum ferritin – a blood test used to determine iron levels in the blood.[medindia.net]



  1. Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009;23(2):261-282.
  2. Johns Hopkins University. Diamond-Blackfan Anemia 1, DBA1. Online Mendelian Inheritance in Man (OMIM). https://www.omim.org/entry/105650. Updated March 28, 2017. Accessed September 9, 2017.
  3. Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood. 2012;119(16):3815-3819.
  4. Campagnoli MF, Ramenghi U, Armiraglio M, et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat. 2008;29(7):911-920.
  5. Gazda HT, Sieff CA. Recent insights into the pathogenesis of Diamond-Blackfan anaemia. Br J Haematol. 2006;135(2):149-157.
  6. Ellis SR. Nucleolar stress in Diamond Blackfan anemia pathophysiology. Biochim Biophys Acta. 2014;1842(6):765-768.
  7. Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010;150(2):179-188.
  8. Clinton C, Gazda HT. Diamond-Blackfan Anemia. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK7047/. Published 25 Jun, 2009. Updated 7 April, 2016. Accessed 18 September, 2017.

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Last updated: 2019-06-28 10:33