Diamond-Blackfan Anemia 1

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Description from OMIM

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). Genetic Heterogeneity of Diamond-Blackfan Anemia A locus for DBA (DBA2; 606129) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (610629), caused by mutation in the RPS24 gene (602412) on 10q22; DBA4 (612527), caused by mutation in the RPS17 gene (180472) on 15q; DBA5 (612528), caused by mutation in the RPL35A gene (180468) on 3q29; DBA6 (612561), caused by mutation in the RPL5 gene (603634) on 1p22.1; DBA7 (612562), caused by mutation in the RPL11 gene (604175) on 1p36; DBA8 (612563), caused by mutation in the RPS7 gene (603658) on 2p25; DBA9 (613308), caused by mutation in the RPS10 gene (603632) on 6p; DBA10 (613309), caused by mutation in the RPS26 (603701) gene on 12q; DBA11 (614900), caused by mutation in the RPL26 gene (603704) on 17p13; DBA12 (615550), caused by mutation in the RPL15 gene (604174) on 3p24; DBA13 (615909), caused by mutation in the RPS29 gene (603633) on 14q; DBA14 (300946), caused by mutation in the TSR2 gene (300945) on Xp11; DBA15 (606164), caused by mutation in the RPS28 gene (603685) on 19p13; DBA16 (617408), caused by mutation in the RPL27 gene (607526) on chromosome 17q21; and DBA17 (617409), caused by mutation in the RPS27 gene (603702) on chromosome 1q21. Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis. Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients. In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Anemia circulatory 100 % 8826887 2015-01-12
Macrocytic anemia circulatory 67 % 8826887 2015-01-12
Facial dysmorphism skeletal 35 % 8826887 2015-01-12
Short stature skeletal 28 % 8826887 2015-01-12
Intrauterine growth retardation multi 25 % 8826887 2015-01-12
Thumb abnormalities skeletal 18 % 8826887 2015-01-12
High arched palate skeletal 15 % 8826887 2015-01-12
Cleft lip or palate skeletal 6 % 8826887 2015-01-12

List of references:

Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.
S E Ball, C P McGuckin, G Jenkins, E C Gordon-Smith,

The U.K. Diamond-Blackfan Anaemia (DBA) Registry was established with the aim of providing a representative database for studies on the aetiology, pathophysiology and treatment of DBA. We have analysed retrospective data from 80 cases (33 male, 47 female) born in the U.K. in a 20-year period (1975-94), representing an annual incidence of 5 per million live births. Ten children from seven families had an apparently familial disorder. 13% were anaemic at birth, and 72.5% had presented by the age of 3 months. 67% had macrocytosis at presentation. 72% responded initially to steroids, and at the time of study 61% were transfusion-independent (45% steroid-dependent) and 39% required regular transfusions. Unequivocal physical anomalies, predominantly craniofacial, were present in 37%, and were more likely in boys (52%) than girls (25%). 18% had thumb abnormalities. Height was below the third centile for age in 28%, and 31% had neither short stature nor physical anomalies. Four children without physical abnormalities had normal red cell indices, and achieved steroid-independent remission, suggesting transient erythroblastopenia of childhood rather than DBA. The birth month distribution of children with sporadic DBA and craniofacial dysmorphism showed a possible seasonality, consistent with a viral aetiology.

British journal of haematology - Sep 1996