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Yang, C. Autosomal Recessive Congenital Methemoglobinemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4900 (accessed on 14 September 2026).
Yang C. Autosomal Recessive Congenital Methemoglobinemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4900. Accessed September 14, 2026.
Yang, Catherine. "Autosomal Recessive Congenital Methemoglobinemia" Encyclopedia, https://encyclopedia.pub/entry/4900 (accessed September 14, 2026).
Yang, C. (2020, December 24). Autosomal Recessive Congenital Methemoglobinemia. In Encyclopedia. https://encyclopedia.pub/entry/4900
Yang, Catherine. "Autosomal Recessive Congenital Methemoglobinemia." Encyclopedia. Web. 24 December, 2020.
Autosomal Recessive Congenital Methemoglobinemia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia

Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).

genetic conditions

References

  1. Arikoglu T, Yarali N, Kara A, Bay A, Bozkaya IO, Tunc B, Percy MJ. A novelL218P mutation in NADH-cytochrome b5 reductase associated with type I recessivecongenital methemoglobinemia. Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):381-5.doi: 10.1080/08880010902979233.
  2. Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, BeauvaisP, Billette de Villemeur T, Vidailhet M, Roze E. Recessive hereditarymethaemoglobinaemia, type II: delineation of the clinical spectrum. Brain. 2008Mar;131(Pt 3):760-1. doi: 10.1093/brain/awm337.
  3. Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O,Barcellini W, Zanella A. Recessive hereditary methemoglobinemia: two novelmutations in the NADH-cytochrome b5 reductase gene. Blood Cells Mol Dis. 2008Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002.
  4. Hudspeth MP, Joseph S, Holden KR. A novel mutation in type IImethemoglobinemia. J Child Neurol. 2010 Jan;25(1):91-3. doi:10.1177/0883073809336136.
  5. Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL,Prchal JT. Molecular basis of two novel mutations found in type Imethemoglobinemia. Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi:10.1016/j.bcmd.2011.01.005.
  6. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b(5)reductase deficiency. Br J Haematol. 2008 May;141(3):298-308. doi:10.1111/j.1365-2141.2008.07017.x.
  7. Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB. Clinical spectrum andmolecular basis of recessive congenital methemoglobinemia in India. Clin Genet.2015;87(1):62-7. doi: 10.1111/cge.12326.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 1.3K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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