title: Haematological abnormalities in Shwachman-Diamond syndrome.
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.
authors: Department of Haematology, Great Ormond Street Hospital for Children NHS Trust, London.
authors: O P
authors: OP
authors: Smith
authors: I M
authors: IM
authors: Hann
authors: J M
authors: JM
authors: Chessells
authors: B R
authors: BR
authors: Reeves
authors: P
authors: P
authors: Milla
mesh_terms: D000293:Adolescent; D000328:Adult; D001855:Bone Marrow Diseases / Q000097:blood / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D010188:Exocrine Pancreatic Insufficiency / Q000097:blood / Q000150:complications* / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006130:Growth Disorders / Q000097:blood / Q000150:complications* / Q000235:genetics; D006402:Hematologic Diseases / Q000209:etiology*; D006801:Humans; D007223:Infant; D007951:Leukemia, Myeloid / Q000209:etiology; D008297:Male; D009190:Myelodysplastic Syndromes / Q000209:etiology; D011379:Prognosis; D013577:Syndrome
chemical_list: D005319:Fetal Hemoglobin