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Diamond‐Blackfan anaemia in the Italian population
Author(s) -
Ramenghi U.,
Garelli E.,
Valtolina S.,
Campagnoli M. F.,
Timeus F.,
Crescenzio N.,
Mair M.,
Varotto S.,
D'Avanzo M.,
Nobili B.,
Massolo F.,
Mori P. G.,
Locatelli F.,
Gustavsson P.,
Dahl N.,
Dianzani I.
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01267.x
Subject(s) - diamond–blackfan anemia , medicine , pediatrics , population , genetics , environmental health , biology , gene , ribosome , rna
Diamond‐Blackfan anaemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation; 30% of patients have congenital malformations. The link between these malformations and defective erythropoiesis is unclear: a defect in a molecule acting both on embryo development and haemopoiesis has been proposed. Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported. Many cases are sporadic. A DBA locus has been mapped on chromosome 19q13.2 (Gustavsson et al , 1997), but several families unlinked to this locus have also been reported (Gustavsson et al , 1998). This paper presents clinical, epidemiological and molecular data for DBA in the Italian population. Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA. There was evidently locus heterogeneity for DBA in this population. A new microdeletion was identified in one patient. Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene.