Diamond-Blackfan Anemia 1

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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