Summary. Haemopoietic dysfunction, ranging from single‐lineage cytopenia to severe aplasia and/or myelodysplasia (MDS), is prominent in Shwachman–Diamond syndrome (SDS). To assess haemopoietic stem cell proliferation in SDS, we compared leucocyte telomere length in 12 patients with SDS to that of 41 controls, using an in‐gel hybridization technique. SDS patients had an age‐adjusted mean telomere length 1·4 kilobase pairs (kbp) shorter than controls ( P < 0·0001). Patients with'non‐severe′ SDS (one‐ or two‐lineage cytopenias; no MDS) had shortened telomeres (−1·4 kbp; P = 0·0004), as did those with ‘severe’ SDS. We conclude that stem cell hyperproliferation is a feature of SDS from its outset.
Establishing research capacity in low- and middle-income countries (LMICs) is key for improving the outcomes of patients with hematologic diseases globally. Few studies have analyzed the contributions of LMICs to global hematology. The American Society of Hematology Meeting (ASH) is the largest international academic event where peer-reviewed contributions in our field are presented.