Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.
Pearson's marrow/pancreas syndrome (PS) is a rare, often fatal, disorder of infancy that is characterized by impaired bone marrow, exocrine pancreatic, hepatic and renal function. Large-scale  rearrangements of mitochondrial DNA (mtDNA) are present in blood. We report a patient with PS who has predominantly impaired haemopoiesis manifesting as sideroblastic anaemia, vacuolization of bone marrow precursors, and neutropenia. 77% of bone marrow mtDNA was rearranged (64% deleted an 13% duplicated). We suggest that rearrangements of mtDNA should be sought in all infants presenting with sideroblastic anaemia.
Smith
O P
OP
Department of Paediatric Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London.
Hann
I M
IM
Woodward
C E
CE
Brockington
M
M
D000756:Anemia, Sideroblastic / Q000097:blood / Q000235:genetics*; D015139:Blotting, Southern; D001855:Bone Marrow Diseases / Q000235:genetics*; D004272:DNA, Mitochondrial; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D005810:Multigene Family; D010182:Pancreatic Diseases / Q000097:blood / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial