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Hereditary Methemoglobinemia due to Diaphorase Deficiency

Hereditary Methemoglobinemia due to Diaphorase Deficiency Acta haemal. 43: 177-183 (1970) Report of a Case of Heterozygote Presenting with Cyanosis After Birth S. S. Lo, W. H . H it z ig a n d H . R. M a r t i Department of Pediatrics, (Director: Prof. A. P r a d e r ) , University of Zurich, Zurich and Department of Medicine, (Director: Prof. H. R. M a r t i) , Kantonsspital Aarau, Aarau M ethemoglobinemia is characterized by a diffuse slate gray cya­ nosis and caused by excessive amounts o f methemoglobin in the erythro­ cytes. This disorder may result from a) exposure to oxidizing agents and drugs such as nitrates, aniline derivatives, resorcin, and sulfona­ mides; b) genetically determined deficiency of one of the enzymes required for reduction o f methemoglobin to hemoglobin; and c) genetically determ ined abnormalities in the structure o f hemoglobin molecule (H bM ) which increase the susceptibility to oxidation and decrease the susceptibility to reduction. About 250 cases of hereditary methemoglobinemia, presumed or proved to be due to DPNH-methemoglobin reductase (diaphorase) deficiency, have been reported since 1844 [11). The condition is trans­ mitted by an autosomal recessive gene [1, 2, 18]. Affected homozygotes http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Haematologica Karger

Hereditary Methemoglobinemia due to Diaphorase Deficiency

Lo, S.S.; Hitzig, W.H.; Marti, H.R.
Acta Haematologica , Volume 43 (3): 7 – Jan 1, 2009
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Publisher
Karger
Copyright
© 1970 S. Karger AG, Basel
ISSN
0001-5792
eISSN
1421-9662
DOI
10.1159/000208725
Publisher site
See Article on Publisher Site

Abstract

Acta haemal. 43: 177-183 (1970) Report of a Case of Heterozygote Presenting with Cyanosis After Birth S. S. Lo, W. H . H it z ig a n d H . R. M a r t i Department of Pediatrics, (Director: Prof. A. P r a d e r ) , University of Zurich, Zurich and Department of Medicine, (Director: Prof. H. R. M a r t i) , Kantonsspital Aarau, Aarau M ethemoglobinemia is characterized by a diffuse slate gray cya­ nosis and caused by excessive amounts o f methemoglobin in the erythro­ cytes. This disorder may result from a) exposure to oxidizing agents and drugs such as nitrates, aniline derivatives, resorcin, and sulfona­ mides; b) genetically determined deficiency of one of the enzymes required for reduction o f methemoglobin to hemoglobin; and c) genetically determ ined abnormalities in the structure o f hemoglobin molecule (H bM ) which increase the susceptibility to oxidation and decrease the susceptibility to reduction. About 250 cases of hereditary methemoglobinemia, presumed or proved to be due to DPNH-methemoglobin reductase (diaphorase) deficiency, have been reported since 1844 [11). The condition is trans­ mitted by an autosomal recessive gene [1, 2, 18]. Affected homozygotes

Journal

Acta Haematologica – Karger

Published: Jan 1, 2009

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