Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia)
Type I congenital methemoglobinemia is an autosomal recessive disorder. A high frequency of congenital methemoglobinemia has been reported among Native Americans inhabiting the Yukon-Kuskokwim Delta. Other rare cases of congenital methemoglobinemia of types I and II have been reported in Japan and o...
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fthowarduniv:oai:dh.howard.edu:sicklecell_fac-1032 2023-12-03T10:25:28+01:00 Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) Burtseva, Tatiana E. Ammosova, Tatiana N. Protopopova, Natalia N. Yakovleva, Svetlana Y. Slobodchikova, Maya P. 2017-01-01T08:00:00Z https://dh.howard.edu/sicklecell_fac/33 unknown Digital Howard @ Howard University https://dh.howard.edu/sicklecell_fac/33 The Center For Sickle Cell Disease Faculty Publications Autosomal recessive disorder Congenital disease Cyanosis Mutation Natives Yakutia text 2017 fthowarduniv 2023-11-06T10:08:53Z Type I congenital methemoglobinemia is an autosomal recessive disorder. A high frequency of congenital methemoglobinemia has been reported among Native Americans inhabiting the Yukon-Kuskokwim Delta. Other rare cases of congenital methemoglobinemia of types I and II have been reported in Japan and other countries. In Russia - namely, in Yakutia - a high frequency of type I congenital methemoglobinemia has been reported. In 2009, the Consultation Polyclinic of the Pediatric Center in Yakutsk city established a registry of children with congenital methemoglobinemia. In total, 43 patients were registered between 2005 and 2009. The median methemoglobin level was 13.5% (ranging between 4.2% and 33.9%) and physical examination revealed cyanosis of the skin and mucus membranes. There were significant positive relationships between percentage of methemoglobin and erythrocyte count, hemoglobin concentration, and hematocrit among male patients, consistent with an upregulation of the hypoxic response. The prevalence per 100,000 children ranged from 12.7 to 47.0 in 3 geographic regions of Yakutia. Further research is needed to clarify the clinical consequences of congenital methemoglobinemia in the children of Yakutia and the reasons for the high variability in the prevalence of the condition. Text Kuskokwim Republic of Sakha Yakutia Yakutsk Yukon Howard University: Digital Howard Sakha Yakutsk Yukon |
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Howard University: Digital Howard |
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Autosomal recessive disorder Congenital disease Cyanosis Mutation Natives Yakutia |
spellingShingle |
Autosomal recessive disorder Congenital disease Cyanosis Mutation Natives Yakutia Burtseva, Tatiana E. Ammosova, Tatiana N. Protopopova, Natalia N. Yakovleva, Svetlana Y. Slobodchikova, Maya P. Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
topic_facet |
Autosomal recessive disorder Congenital disease Cyanosis Mutation Natives Yakutia |
description |
Type I congenital methemoglobinemia is an autosomal recessive disorder. A high frequency of congenital methemoglobinemia has been reported among Native Americans inhabiting the Yukon-Kuskokwim Delta. Other rare cases of congenital methemoglobinemia of types I and II have been reported in Japan and other countries. In Russia - namely, in Yakutia - a high frequency of type I congenital methemoglobinemia has been reported. In 2009, the Consultation Polyclinic of the Pediatric Center in Yakutsk city established a registry of children with congenital methemoglobinemia. In total, 43 patients were registered between 2005 and 2009. The median methemoglobin level was 13.5% (ranging between 4.2% and 33.9%) and physical examination revealed cyanosis of the skin and mucus membranes. There were significant positive relationships between percentage of methemoglobin and erythrocyte count, hemoglobin concentration, and hematocrit among male patients, consistent with an upregulation of the hypoxic response. The prevalence per 100,000 children ranged from 12.7 to 47.0 in 3 geographic regions of Yakutia. Further research is needed to clarify the clinical consequences of congenital methemoglobinemia in the children of Yakutia and the reasons for the high variability in the prevalence of the condition. |
format |
Text |
author |
Burtseva, Tatiana E. Ammosova, Tatiana N. Protopopova, Natalia N. Yakovleva, Svetlana Y. Slobodchikova, Maya P. |
author_facet |
Burtseva, Tatiana E. Ammosova, Tatiana N. Protopopova, Natalia N. Yakovleva, Svetlana Y. Slobodchikova, Maya P. |
author_sort |
Burtseva, Tatiana E. |
title |
Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
title_short |
Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
title_full |
Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
title_fullStr |
Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
title_full_unstemmed |
Enzymopenic congenital methemoglobinemia in children of the Republic of Sakha (Yakutia) |
title_sort |
enzymopenic congenital methemoglobinemia in children of the republic of sakha (yakutia) |
publisher |
Digital Howard @ Howard University |
publishDate |
2017 |
url |
https://dh.howard.edu/sicklecell_fac/33 |
geographic |
Sakha Yakutsk Yukon |
geographic_facet |
Sakha Yakutsk Yukon |
genre |
Kuskokwim Republic of Sakha Yakutia Yakutsk Yukon |
genre_facet |
Kuskokwim Republic of Sakha Yakutia Yakutsk Yukon |
op_source |
The Center For Sickle Cell Disease Faculty Publications |
op_relation |
https://dh.howard.edu/sicklecell_fac/33 |
_version_ |
1784274355397591040 |