228
Views
1
CrossRef citations to date
0
Altmetric
CASE REPORT

Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the CYB5R Gene in the State of Qatar: A Case Report

, ORCID Icon, ORCID Icon &
Pages 247-251 | Received 02 Nov 2022, Accepted 21 Mar 2023, Published online: 31 Mar 2023

References

  • Cortazzo JA, Lichtman AD. Methemoglobinemia: a review and recommendations for management. J Cardiothorac Vasc Anesth. 2014;28(4):1043–1047. doi:10.1053/j.jvca.2013.02.005
  • Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency. Br J Haematol. 2008;141(3):298–308. doi:10.1111/j.1365-2141.2008.07017.x
  • Camp NE. Methemoglobinemia. J Emerg Nurs. 2007;33(2):172–174. doi:10.1016/j.jen.2006.11.007
  • Kedar PS, Warang P, Nadkarni AH, Colah RB, Ghosh K A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. Blood Cells Mol Dis. ;40(3):323–327.
  • Percy MJ, Barnes C, Crighton G, et al. Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. J Pediatr Hematol Oncol. 2012;34(6):457–460. doi:10.1097/MPH.0b013e318257a492
  • Mansouri A, Lurie AA. Methemoglobinemia. Am J Hematol. 1993;42(1):7–12. doi:10.1002/ajh.2830420104
  • Neander NG, Loner CA, Rotoli JM. The acute treatment of methemoglobinemia in pregnancy. J Emerg Med. 2018;54(5):685–689. doi:10.1016/j.jemermed.2018.01.038
  • Skold A, Cosco DL, Klein R. Methemoglobinemia: pathogenesis, diagnosis, and management. South Med J. 2011;104(11):757–761. doi:10.1097/SMJ.0b013e318232139f
  • Kedar PS, Gupta V, Warang P, et al. 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. 2018;23(8):567–573. doi:10.1080/10245332.2018.1444920
  • Carreira R, Palaré MJ, Prior AR, Garcia P, Abrantes M. An unusual cause of neonatal cyanosis…. Case Rep. 2015;2015:bcr2014208371.
  • Alonso-Ojembarrena A, Lubián-López SP. Hemoglobin M disease as a cause of cyanosis in a newborn. J Pediatr Hematol Oncol. 2016;38(3):173–175. doi:10.1097/MPH.0000000000000489
  • Scott EM, Dale D. HOSKINS. “Hereditary methemoglobinemia in Alaskan Eskimos and Indians”. Blood. 1958;13(8):795–802. doi:10.1182/blood.V13.8.795.795
  • Balsamo P, Hardy WR, Scott EM. Hereditary methemoglobinemia due to diaphorase deficiency in Navajo Indians. J Pediatr. 1964;65(6):928–931. doi:10.1016/S0022-3476(64)80017-2
  • Scott RN, Ruiz‐Bonilla JA, Christensen RD, et al. A patient with both methemoglobinemia and G6PD deficiency: a therapeutic conundrum. Am J Hematol. 2017;92(5):474. doi:10.1002/ajh.24683
  • Badawi MA, Badawi M, Wali S, et al. Hereditary methemoglobinemia manifesting in adolescence. J Appl Hematol. 2016;7(3):108. doi:10.4103/1658-5127.192983