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A trial of recombinant human superoxide dismutase in patients with Fanconi anaemia
Author(s) -
Liu Johnson M.,
Auerbach Arleen D.,
Anderson Stacie M.,
Green Spencer W.,
Young Neal S.
Publication year - 1993
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.1365-2141.1993.tb03186.x
Subject(s) - recombinant dna , superoxide dismutase , fanconi anemia , medicine , hematology , immunology , biology , dna , biochemistry , oxidative stress , gene , dna repair
Summary Fanconi anaemia (FA) is a rare genetic disorder that predisposes to the development of aplastic anaemia and neoplasia. The pathophysiologic hallmark of FA is increased susceptibility to chromosomal breakage. Superoxide metabolism has also been shown to be involved in the cellular pathophysiology of FA. Human SOD (rh‐SOD), an enzyme which dismutates superoxide, has recently been cloned and expressed in yeast. We treated four FA patients with a 2‐week infusion of rh‐SOD (25 mg/kg d daily) to determine whether rh‐SOD had any effect on haemopoietic progenitor cell growth or on the abnormal cellular phenotype. We found that lymphocyte chromosomal aberrations induced by diepoxybutane were decreased during rh‐SOD treatment in two patients and that bone marrow progenitors were increased in one patient.