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Recessive congenital methaemoglobinaemia (RCM) is a very rare recessive genetic disorder (OMIM 250800) caused by a deficiency of NADH-cytochrome b5 reductase (cb5r). Two clinical forms of methaemoglobinaemia have been described [1]. In RCM type I, the cb5r deficiency is limited to erythrocytes, and cyanosis is the only clinical symptom. In RCM type II, cyanosis is associated with severe neurological impairment, because the cb5r deficiency is generalized to all tissues [2]. In general, mutations resulting in the synthesis of unstable cb5r lead to type I methaemoglobinaemia, while mutations associated with severe loss of enzyme activity are often linked to RCM type II. Until now, >40 mutations in unrelated patients from different populations have been described [3].Here, we report a novel CYB5R3 gene mutation leading to RCM type I, diagnosed in a Polish family. We also discuss the functional effect of the detected mutation on the structure of the enzyme.Patient E.B. has been under the care of the Oncology and Haematology Department at the University Children's Hospital of Krakow since March 2011. He was diagnosed with methaemoglobinaemia in the neonatal period. The concentration of methaemoglobin (MetHb) was 3.4-8.4% at that time, and he was given an infusion of methylene blue. During
Acta Haematologica – Karger
Published: Jan 1, 2013
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