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Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA
Author(s) -
SMITH O. P.,
HANN I. M.,
WOODWARD C. E.,
BROCKINGTON M.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb05178.x
Subject(s) - bone marrow , mitochondrial dna , sideroblastic anemia , pathology , pancreas , biology , neutropenia , haematopoiesis , exocrine pancreatic insufficiency , vacuolization , gene duplication , medicine , endocrinology , genetics , stem cell , gene , chemotherapy
Summary. 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.