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Coexisting Hereditary Methaemoglobinaemia and Heterozygous β‐Tialassaemia
Author(s) -
KUMAR RAJIVE,
TANDON RAJ,
BADAMI K. G.
Publication year - 1989
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1989.tb10907.x
Subject(s) - medicine , methemoglobinemia , compound heterozygosity , diaphorase , pediatrics , hemoglobinopathy , heterozygote advantage , hemolytic anemia , anesthesia , genetics , mutation , genotype , biochemistry , chemistry , biology , gene , enzyme
. Cyanosis was noted within a few weeks after birth in two sisters. On investigation the cause of cyanosis was found to be congenital methaemoglobinaemia due to NADH diaphorase deficiency. Heterozygous β‐thaiassaemia was present as an additional incidental finding in one of the sisters, but did not contribute to the symptoms, thus showing that the two diseases, when coexistent, do not pose additional haematological problems. However, it is possible that the β‐thalassaemia counteracts the tendency to compensatory erythrocytosis induced by methaemoglobinaemia