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 Landowski et al., 2013).
And another 68 symptoms. If you need more information about this disease we can help you.
Diamond-blackfan Anemia 1; Dba1 Is also known as red cell aplasia, pure, hereditary, anemia, congenital erythroid hypoplastic, dba, blackfan-diamond syndrome, anemia, congenital hypoplastic, of blackfan and diamond, bds, erythrogenesis imperfecta, aase-smith syndrome ii, aregenerative anemia, chronic congenital.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RPS19
Specificity
100 %
Genes
34 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
3 %
Genes
67 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...)
View the complete list with 23 more genes
Specificity
5 %
Genes
67 % |
You can check the following sources for additional information.
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