Hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in
blood cells without associated neurologic and mental disorders
K Tanishima, K Tanimoto, A Tomoda, K Mawatari, S Matsukawa, Y Yoneyama, H Ohkuwa and E Takazakura
Following the observation of two fraternal patients without neurologic
symptoms, but with hereditary methemoglobinemia due to cytochrome b5
reductase deficiency in erythrocytic and nonerythrocytic cells, a familial
study of their paternal and maternal relatives was undertaken.
Ferrihemoglobin reductase activities in erythrocytes from the two patients
were found to be impaired, and cytochrome b5 reductase activities in
platelets and leukocytes were essentially absent. Any deficiencies of the
enzyme activities seemed not to be found in nonhematopoietic cells. The
enzyme activities in blood cells derived from the parents and some of their
paternal and maternal family members showed levels intermediate between
those of the patients and those of the normal control, which seemed to be
heterozygous. The present cases did not belong to either the classic
erythrocytic or the generalized type, and their enzyme deficiency was found
rather to be restricted to their blood cells and not associated with
neurologic and mental disorders. A necessity of diagnosis by tissues other
than blood cells is discussed for a severe form of generalized-type
hereditary methemoglobinemia with associated neurologic and mental
disorders.
Volume 66,
Issue 6,
pp. 1288-1291,
12/01/1985
Copyright © 1985 by The American Society of Hematology
