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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 6
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Short Communication

Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene

Alexandra ForestierService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France
,
Serge PissardDepartement de Génétique, Centre Hospitalier Universitaire Henri Mondor, Assistance Publique-Hôpitaux de Paris, Créteil, France ;Université Paris Est Créteil and Institut Mondor de Recherche Biomédicale, INSERM, Créteil, France
,
Justine CretetDepartement de Génétique, Centre Hospitalier Universitaire Henri Mondor, Assistance Publique-Hôpitaux de Paris, Créteil, France
,
Adeline MambieService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France
,
Laurent PascalService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France ;Université Catholique de Lille, Université Nord de France, Lille, France
,
Manuel CliquennoisService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France ;Université Catholique de Lille, Université Nord de France, Lille, France
,
Nathalie CambierService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France ;Université Catholique de Lille, Université Nord de France, Lille, France
&
Christian RoseService d’Onco Hématologie, Hôpital Saint Vincent de Paul, Lille, France ;Université Catholique de Lille, Université Nord de France, Lille, France Correspondence[email protected]
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Pages 438-441 | Received 20 Mar 2015, Accepted 29 Apr 2015, Published online: 31 Jul 2015

Citations (5)

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Prabhakar S. Kedar, Vinod Gupta, Prashant Warang, Ashish Chiddarwar & Manisha Madkaikar. (2018) Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. Hematology 23:8, pages 567-573.
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Articles from other publishers (4)

Jiang Ji, Yang Liu & Miao Chen. (2020) Type I congenital methemoglobinemia in a Chinese family. Annals of Hematology 100:9, pages 2417-2419.
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J. A. Jaffey, N. S. Reading, O. Abdulmalik, R. Kreisler, G. Bullock, A. Wiest, N. A. Villani, T. Mhlanga-Mutangadura, G. S. Johnson, L. A. Cohn, N. Isaza, J. W. Harvey & U. Giger. (2020) Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs. Scientific Reports 10:1.
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Vinod Gupta, Anuja Kulkarni, Prashant Warang, Rati Devendra, Ashish Chiddarwar & Prabhakar Kedar. (2020) Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. Human Mutation 41:4, pages 737-748.
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Alvhild Alette Bjørkum, Eystein Oveland, Linda Stuhr, Marianne Bjordal Havnes, Frode Berven, Marit Grønning & Arvid Hope. (2017) Fast hyperbaric decompression after heliox saturation altered the brain proteome in rats. PLOS ONE 12:10, pages e0185765.
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