ANKRD26 normocytic thrombocytopenia: a family report.
We report the identification of a new case of familial non syndromic severe thrombocytopenia. Bleeding was mild and no extra-haematological symptoms were found. Platelet morphology was normal as well as the quantitative expression of platelet membrane glycoproteins. Platelet functions could not be studied due to the intensity of the thrombocytopenia. Molecular analysis identified a mutation located in the promoter of the ankyrin repeat domain 26 (ANKRD26) gene, c.-127A>T, recently reported to be responsible of normocytic thrombocytopenia, but also of a possible increased risk of leukemia/myelodysplasia. Actual knowledge on this new type of inherited thrombocytopenia is also presented.
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Anne
A
Vincenot
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Marie-Françoise
MF
Hurtaud-Roux
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Olivier
O
René
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Sylvie
S
Binard
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Odile
O
Fenneteau
Centre de référence des pathologies plaquettaires (CRPP), Service d'hématologie biologique, CHU Robert Debré, AP-HP, Paris, France.
Nicole
N
Schlegel
D002648:Child; D004252:DNA Mutational Analysis; D005190:Family; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics*
C583630:ANKRD26 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D009687:Nuclear Proteins
ANKRD26; ankyrin; inherited thrombocytopenia