Haematological abnormalities in Shwachman‐Diamond syndrome

1996/08/01 by Owen Smith, Owen P. Smith, Ian Hann +6 · 206 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Biology #Blood disorders and treatments #Bone marrow #Bone marrow failure #Chemotherapy #Congenital Neutropenia #Diamond–Blackfan anemia #Gastroenterology #Haematopoiesis #Immunodeficiency and Autoimmune Disorders #Immunology #Internal medicine #Medicine #Myelodysplastic syndromes #Myeloid #Neutropenia #Pathology #Pneumocystis jirovecii pneumonia detection and treatment #Stem cell

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

published in British Journal of Haematology 94(2), 279-284 (Wiley)

openalex publication_date 1996/08/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/25

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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