Hereditary enzymopenicmethemoglobinemia in children’s population of RS (Y)
Abstract
The hereditary methemogemoglobinemia I type is autosomal-recessive disease, endemic for Sakha (Yakutia) Republic. In this article methemogemoglobinemia registry data of Advisory polyclinic of Pediatric Center RH#1-NSM (Yakutsk) are presented.
About the Authors
N. N. ProtopopovaRussian Federation
S. J. Jakovleva
Russian Federation
T. E. Burtseva
Russian Federation
L. A. Nikolaeva
Russian Federation
References
1. Banshchikova E.S. Features of clinical course and morphofunctional condition of erythrocytes in children with hereditary enzymopenic metgemoglobinemia / E.S. Banshchikova. – abstract of a thesis. … cand. med. sciences. – Tomsk, 2002. – 25 p.
2. Maksimova N.R. Ethno-specifically disease of Yakut people / N.R. Maksimova // The children health of the North. – Yakutsk, 2008. – P.91-94.
3. Bulbartlli A. An erythroid-specific transcript generates the soluble form of NADH-cytochrome b5 reductase in humans / A. Bulbartlli // Blood. – I998. – Vol. 92 – P. 310-319.
4. Fcsher R.A. Assignment of the DIA1 locus to chromosome 22/R.A. Fcsher //Аm. Hum. Genet. – 1977. – Vol. 41. – P. 154-I55.
5. Junlen C. As¬signment of NADHcytochrome b5 reductase (DlAl locus) to human chromosome 22/ C.Junlen // Hum Genet. – 1978. – Vol. 42-P. 233-239.
6. Kugler W. Molecular basis of recessive congenital Methhemoglobinemia, types I and II: exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. J. / W.Kugler // Human Mutation. – 2001. № 17. – P. 348.
7. Pietrini G. A single mRNA tran¬scribed from an alternative, erytroid-specific, promoter, codes for two forms of NADH-cytochrome b5 reductase / G. Pietrini // J. Cell. Biol. – 1992. – Vol. 117. – p. 975-986.
8. Scott Е.М. The relation of diaphorase of human erythrocytes to inheritance of methemoglobinemia /E.M. Scott // J. Clin. Invest. – 1960. Vol. 39. – P. 1177-1179.
9. Tomatsu S. The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene / S. Tomatsu // Gene. – 1989. – Vol. 80. – P. 353-361.
Review
For citations:
Protopopova N.N., Jakovleva S.J., Burtseva T.E., Nikolaeva L.A. Hereditary enzymopenicmethemoglobinemia in children’s population of RS (Y). Yakut Medical Journal. 2011;(2):8-9.









