Diamond-Blackfan anemia 4

Common Name(s)

Diamond-Blackfan anemia 4

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diamond-Blackfan anemia 4" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Diamond-Blackfan anemia 4" returned 1 free, full-text research articles on human participants. First 3 results:

Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.
 

Author(s): Ikuo Matsuda, Yasu-aki Tsuchida, Fumihiko Toyoshima, Katsuyuki Tozawa, Hisatomo Ikehara, Yoshio Ohda, Kazutoshi Hori, Yoshitoshi Ohtsuka, Jiro Watari, Hiroto Miwa, Seiichi Hirota

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Diamond Blackfan anemia (DBA) is a congenital pure red cell aplasia mainly caused by a mutation in ribosomal protein genes. One of the proposed mechanisms for red cell aplasia in DBA is apoptosis caused by constitutive activation of tumor suppressor TP53 protein following defective ...

Last Updated: 20 Jul 2015

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Symptoms, Diagnosis, and Treatment

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