title: [Diamond-Blackfan anemia with extremely low hemoglobin].
abstract: Diamond-Blackfan anaemia (DBA) has been described in approximately 300 cases world wide. It is characterised by a normochromic-macrocytic anaemia in early childhood, reticulocytopenia and a normocellular marrow with a selective deficiency of red cell precursors. Foetal haemoglobin is usually increased, and DBA is associated with increased expression of "i" antigen. DBA is often associated with multiple congenital anomalies, which are described. Transient erythroblastopenia is an important differential diagnosis and the distinctive characteristics are discussed. A case of DBA in an 8-week-old boy presenting with extremely low haemoglobin (0.9 mmol/l) is presented. The literature is reviewed.
authors.affiliation: Randers Centralsygehus, paediatrisk afdeling.
authors.forename: U M
authors.initials: UM
authors.lastname: Andersen
mesh_terms: D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000097:blood* / Q000175:diagnosis; D006454:Hemoglobins / Q000032:analysis*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D006454:Hemoglobins
vernacular_title: Diamond-Blackfan anaemi med ekstremt lavt haemoglobin.