Haematological abnormalities in Shwachman-Diamond syndrome

Authors

  • Owen P. Smith,

    1. 0 Departments of Haematology and 2 Gasteroenterology, Great Ormond Street Hospital for Children NHS Trust, London, and 1 Institute of Child Health, London
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  • Ian M. Hann,

    1. 0 Departments of Haematology and 2 Gasteroenterology, Great Ormond Street Hospital for Children NHS Trust, London, and 1 Institute of Child Health, London
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  • Judith M. Chessells,

    1. 0 Departments of Haematology and 2 Gasteroenterology, Great Ormond Street Hospital for Children NHS Trust, London, and 1 Institute of Child Health, London
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  • Brian R. Reeves,

    1. 0 Departments of Haematology and 2 Gasteroenterology, Great Ormond Street Hospital for Children NHS Trust, London, and 1 Institute of Child Health, London
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  • Peter Milla

    1. 0 Departments of Haematology and 2 Gasteroenterology, Great Ormond Street Hospital for Children NHS Trust, London, and 1 Institute of Child Health, London
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Dr Owen P Smith National Children’s Hospital, Harcourt Street, Dublin 2, Ireland

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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