Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype.
Bone marrow failure is believed to be the underlying condition that drives the expansion of the paroxysmal nocturnal haemoglobinuria (PNH) clone. Indeed, circulating PNH blood cells have been identified in patients with acquired aplastic anaemia and with hypoplastic myelodysplasia. Whether PNH blood cells are also present in patients with inherited aplastic anaemia has not been reported. We screened a large group of patients diagnosed with Shwachman-Diamond Syndrome (SDS) for PNH blood cells. None of the patients analysed had detectable circulating PNH blood cells, indicating that bone marrow failure in SDS does not select for PNH progenitor cells.
Keller
Peter
P
Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.
Debaun
Michael R
MR
Rothbaum
Robert J
RJ
Bessler
Monica
M
D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000473:pathology*; D002648:Child; D002999:Clone Cells; D005260:Female; D006410:Hematopoiesis / Q000502:physiology*; D006457:Hemoglobinuria, Paroxysmal / Q000209:etiology / Q000473:pathology*; D006801:Humans; D008297:Male; D010641:Phenotype