Haematological abnormalities in Shwachman‐Diamond syndrome

1996/08/01 by Owen Smith, Owen P. Smith, Ian Hann +6 · 11 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Immunology and Microbiology · #Blood disorders and treatments #Pneumocystis jirovecii pneumonia detection and treatment #Immunodeficiency and Autoimmune Disorders

paper · doi:10.1046/j.1365-2141.1996.d01-1788.x

Abstract

We have analysed the haematological parameters in 21 patients with Shwachman-Diamond syndrome (SDS) seen over a 25-year period at our institution. Neutropenia, although present in all patients, was intermittent in two-thirds, constant in the rest and was associated with impaired chemotaxis in all of those patients tested. Fetal haemoglobin (HbF) was elevated in 80% of the patients at some stage, and anaemia and thrombocytopenia was documented in 66% and 24% respectively. Bone marrow samples were taken in over half of the patients. Myelodysplastic syndrome (MDS) developed in seven (33%) patients, five of whom had acquired clonal structural chromosome abnormalities in their bone marrows. In five of the patients with MDS (24%) transformation to acute myeloid leukaemia occurred. Like other constitutional bone marrow failure syndromes. SDS has a predilection to leukaemic transformation hitherto assumed to be in the region of 5-10%. The data presented here suggest that this figure probably represents an underestimate. Shwachman-Diamond syndrome is an interesting model of leukaemia development and greater understanding of the clinical spectrum of this rare disorder should produce further insights into its pathobiology.

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• Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. [europepmc]
• The inherited bone marrow failure syndromes. [europepmc]
• Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. [europepmc]
• Inherited bone marrow failure syndromes in adolescents and young adults. [europepmc]
• IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome. [europepmc]
• Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure. [europepmc]
• Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors. [europepmc]
• Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome. [europepmc]
• Primary Immunodeficiencies [europepmc]

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