Recommendations for diagnosis and treatment of methemoglobinemia.

Patrick G Gallagher, Josef Prchal, Cornelis L Harteveld, Gian Luca Forni, Mariane De Montalembert, Antonella Gambale, Lucia De Franceschi, Andreas Kulozik, Razan Mohty, Ali Taher, Noemi Roy, Achille Iolascon, Antonis Kattamis, Richard Van Wijk, David Rees, Stefano Ghirardello, Gergely Toldi, Elisa Fermo, Wilma Barcellini, Roberta Russo, Immacolata Andolfo, Paola Bianchi

Journal: American journal of hematology 2022;96(12):1666-1678

PMID: 34467556

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Abstract

Methemoglobinemia is a rare disorder associated with oxidization of divalent ferro-iron of hemoglobin (Hb) to ferri-iron of methemoglobin (MetHb). Methemoglobinemia can result from either inherited or acquired processes. Acquired forms are the most common, mainly due to the exposure to substances that cause oxidation of the Hb both directly or indirectly. Inherited forms are due either to autosomal recessive variants in the CYB5R3 gene or to autosomal dominant variants in the globin genes, collectively known as HbM disease. Our recommendations are based on a systematic literature search. A series of questions regarding the key signs and symptoms, the methods for diagnosis, the clinical management in neonatal/childhood/adulthood period, and the therapeutic approach of methemoglobinemia were formulated and the relative recommendations were produced. An agreement was obtained using a Delphi-like approach and the experts panel reached a final consensus >75% of agreement for all the questions.

Address: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Napoli, Italy.; CEINGE Biotecnologie Avanzate, Napoli, Italy.; UOS Fisiopatologia delle Anemie, UO Ematologia, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Milano, Milan, Italy.; Department of Neonatology, Birmingham Women's and Children's Hospital, Birmingham, UK.; Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; King's College Hospital, King's College London, London, UK.; Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; First Department of Pediatrics, University of Athens, Athens, Greece.; Departments of Pediatrics, Pathology, and Genetics, Yale University, New Haven, Connecticut, USA.; Department of Haematology, Oxford University Hospitals, NHS Foundation Trust; NIHR BRC Blood Theme; Department of Haematology, Oxford, UK.; Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Hopp- Children's Cancer Research Center (KiTZ), Heidelberg, Germany.; Department of Medicine, University of Verona, and Azienda Ospedaliera Universitaria Verona, Verona, Italy.; Department of Laboratory Medicine (DAIMedLab), UOC Medical Genetics, 'Federico II' University Hospital, Naples, Italy.; Pédiatrie générale et maladies infectieuses, Centre de référence de la drépanocytose, Hôpital Necker-Enfants Malades, APHP Paris, Paris, France.; Centro della Microcitemia e Anemie Congenite, Genova, Italy.; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands.; Hematology, University of Utah & Huntsman Cancer Center, Salt Lake City, Utah, USA.

DOI: 10.1002/ajh.26340