Diamond-Blackfan Anemia 1

Alternative Names

  • DBA1
  • Blackfan-Diamond Syndrome
  • BDS
  • Anemia, Congenital Hypoplastic, of Blackfan and Diamond
  • Anemia, Congenital Erythroid Hypoplastic
  • Red Cell Aplasia, Pure, Hereditary
  • Aregenerative Anemia, Chronic Congenital
  • Erythrogenesis Imperfecta
  • AASE-Smith Syndrome II
  • AASE Syndrome
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

OMIM Number

105650

Mode of Inheritance

Autosomal dominant

Gene Map Locus

19q13.2

Description

Diamond-Blackfan anemia (DBA) is a congenital blood disorder that is caused by the inability of the bone marrow to produce red blood cells. It is usually diagnosed in early infancy and affects both sexes with no specific predisposition to any ethnic group. Presenting features in infants are pallor and dyspnea mainly whilst feeding or sucking. Symptoms other than anemia, including short stature, urogenital abnormalities, fatigue, and craniofacial abnormalities may be present in about 50% of DBA patients. Treatment of DBA involves therapeutic approaches including regular transfusions, bone marrow/stem cell transplantation and long term corticosteroid therapy. Patients suffering from DBA are at higher risk of developing leukemia and other types of cancers.

DBA originate due to heterozygous mutations in the genes encoding ribosomal proteins, either within the small (RPS7, RPS17, RPS19, RPS24) or the large (RPL5, RPL11, RPL35a) ribosomal subunit. The most frequently observed mutations occur in RPS19, RPL5, and RPL11, comprising 25%, 9%, and 6.5% of the patients, respectively, while only 1-3% of cases are caused by other genes.

Epidemiology in the Arab World

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Other Reports

Jordan

Madanat et al. (1994) reported seven cases of Diamond-Blackfan anemia within the same extended family. All the patients were born to consanguineous parents and belonged to the same generation within the family. The study suggested that these cases could be a variant of DBA due to the presence of unusual clinical features and long-term complications.

 

Kuwait

Three Arab children with congenital hypoplastic anemia were reported by Lubani et al. (1987). They did not have any associated congenital or chromosomal anomalies, but the patients displayed pallor during their first three months of life and received corticosteroids for varying periods as part of their treatment plan.

Abou Shanab (1997) studied 14 children (13 females and one male) from Kuwait diagnosed with Diamond-Blackfan anemia. Seven of these patients were born to first-cousin parents, indicating an autosomal recessive pattern of inheritance. All studied patients suffered from significant anemia within the first 9-months of life, and eight of them presented with short stature. Facial dysmorphism and thumb anomalies were recorded in three different cases and one girl had congenital chloride diarrhea. Certain hematological features were recorded, such as normochromic macrocytic anemia, reticulocytopenia and isolated absence or significant depression of erythroid precursors in the bone marrow. [Abou Shanab OA. Diamond-Blackfan anaemia in Kuwait: outcome of fourteen cases. Kuwait Med J. 1997; 29(3):269-74.]

Bourhama et al. (2004) reported three sisters with Diamond-Blackfan anemia from a consanguineous family, suggesting autosomal recessive mode of inheritance. The patients presented with symptoms (anemia without hepatosplenomegaly) within the first 2 months of life. They were given blood transfusions and then started on prednisolone 2 mg/kg/day in divided doses, tapering the dose to a minimum to keep Hb around 90 g/l.

 

 

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