Unusual cause of cyanosis in the newborn: hemoglobin M
DOI:
https://doi.org/10.51481/amc.v65i1.1269Keywords:
cyanosis, methemoglobin, hemoglobin MAbstract
Hemoglobin M is a rare hereditary disorder that causes methemoglobinemia and therefore cyanosis. The clinical manifestations of this condition differs considerably, so it should be considered as a differential diagnosis in a newborn with cyanosis, with no other apparent cause. The case of a 5 hours old newborn is presented below, with generalized cyanosis from birth with oxygen saturations between 60-70%, in whom, upon ruling out pathologies such as perinatal hypoxia, pulmonary disease, heart disease and sepsis, a high level of methemoglobin is documented, reported in 21,6%; the diagnosis of methemoglobinemia was established. The treatment administered was two doses of methylene blue with no response. For this reason, hemoglobin electrophoresis was performed, which was compatible with Hemoglobin M (Iwate or Kankakee), confirming its congenital cause.
Downloads
References
Schnedl WJ, Queissner R, Schenk M, Enko D, Mangge H. Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr). Wien Klin Wochenschr. 2019; 131:381-384. DOI: 10.1007/s00508-019-1525-2
Zárate Aspiros R, Rosas Sumano A, Sánchez Ramírez A. Metahemoglobinemia congénita. Informe de un caso. 2014; 34:39-42. DOI: 10.18233/APM34No1pp39-42
Alsabri M, Viswanathan K, Elias A, Peichev M. Congenital methemoglobinemia and unstable hemoglobin variant in a child with cyanosis. Cureus. 2021; 13:e16081. DOI: 10.7759/cureus.16081
Marcos Borato V, André Rolim B. De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth. Rev Bras Hematol Hemoter. 2014; 36:230-234. DOI: 10.1016/j.bjhh.2014.03.020
Alonso-Ojembarrena A, Lubián-López SP. Hemoglobin M disease as a cause of cyanosis in a newborn. J Pediatr Hematol Oncol. 2016; 38:173-175. DOI: 10.1097/MPH.0000000000000489
Rangan A, Savedra ME, Dergam-Larson C, Swanson KC, Szuberski J, Go RS, et al. Interpreting sulfhemoglobin and methemoglobin in patients with cyanosis: An overview of patients with M-hemoglobin variants. Int J Lab Hematol. 2021; 43:837-844. DOI: 10.1111/ijlh.13581
Izraelit A, Ten V, Krishnamurthy G, Ratner V. cyanosis: diagnostic and management challenges. ISRN Pediatr. 2011; 2011:17593. DOI: 10.5402/2011/175931
Dasgupta S, Bhargava V, Huff M, Jiwani AK, Aly AM. Evaluation of the cyanotic newborn: Part I—A neonatologist's perspective. NeoReviews. 2016; 17:e598-e604. DOI: 10.1542/neo.17-10-e598
Iolascon A, Bianchi P, Andolfo I, Russo R, Barcellini W, Fermo E, et al. Recommendations for diagnosis and treatment of methemoglobinemia. Am J Hematol. 2021; 96:1666-1678
Ward J, Motwani J, Baker N, Nash M, Ewer AK, Toldi G. Congenital methemoglobinemia identified by pulse oximetry screening. Pediatrics. 2019; 143:e20182814. DOI: 10.1542/peds.2018-2814
Downloads
Published
Issue
Section
License
Copyright (c) 2023 Acta Médica Costarricense
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Los autores que publican en la revista Acta Médica Costarricense pueden distribuir, copiar, remezclar, retocar, leer, descargar, imprimir, buscar y crear a partir de su obra de modo no comercial, indicando los créditos a la revista y sus autores y compartir su obra en las mismas condiciones. Para ello se aplica la licencia Creative Commons Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional(CC BY-NC-SA 4.0)
