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Hereditary methemoglobinemia

MedGen UID:
473013
•Concept ID:
C0272087
•
Disease or Syndrome
Synonym: Congenital Methemoglobinemia
SNOMED CT: Congenital methemoglobinemia (267550008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: CYB5R3, CYB5A
 
Monarch Initiative: MONDO:0018963
Orphanet: ORPHA621

Definition

A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). [from ORDO]

Professional guidelines

PubMed

A review of methylene blue treatment for cardiovascular collapse.
Lo JC, Darracq MA, Clark RF
J Emerg Med 2014 May;46(5):670-9. Epub 2014 Feb 6 doi: 10.1016/j.jemermed.2013.08.102. PMID: 24508113

Recent clinical studies

Etiology

The First Korean Family with Hemoglobin-M Milwaukee-2 Leading to Hereditary Methemoglobinemia.
Kim DS, Baek HJ, Kim BR, Yoon BA, Lee JH, Kook H
Yonsei Med J 2020 Dec;61(12):1064-1067. doi: 10.3349/ymj.2020.61.12.1064. PMID: 33251782Free PMC Article
Enzymopenic hereditary methemoglobinemia: a clinical/biochemical classification.
Jaffé ER
Blood Cells 1986;12(1):81-90. PMID: 3539237
HEREDITARY METHEMOGLOBINEMIA DUE TO DIAPHORASE DEFICIENCY IN NAVAJO INDIANS.
BALSAMO P, HARDY WR, SCOTT EM
J Pediatr 1964 Dec;65:928-31. doi: 10.1016/s0022-3476(64)80017-2. PMID: 14244100

Diagnosis

Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr).
Schnedl WJ, Queissner R, Schenk M, Enko D, Mangge H
Wien Klin Wochenschr 2019 Aug;131(15-16):381-384. Epub 2019 Jul 2 doi: 10.1007/s00508-019-1525-2. PMID: 31267164
Hereditary methemoglobinemia in a cyanotic cat presented for ovariohysterectomy.
Vasiliadou E, Karakitsou V, Kazakos G, Oikonomidis IL, Tsouloufi TK, Kosmas P, Abdulmalik OY, Koutinas C, Giger U, Mylonakis ME
Can Vet J 2019 May;60(5):502-506. PMID: 31080263Free PMC Article
Hereditary methemoglobinemia.
Jamal A
J Coll Physicians Surg Pak 2006 Feb;16(2):157-9. PMID: 16499818
Enzymopenic hereditary methemoglobinemia.
Jaffé ER
Haematologia (Budap) 1982 Dec;15(4):389-99. PMID: 6764628
Methemoglobin pathophysiology.
Jaffé ER
Prog Clin Biol Res 1981;51:133-51. PMID: 7022466

Therapy

A review of methylene blue treatment for cardiovascular collapse.
Lo JC, Darracq MA, Clark RF
J Emerg Med 2014 May;46(5):670-9. Epub 2014 Feb 6 doi: 10.1016/j.jemermed.2013.08.102. PMID: 24508113
A Thai boy with hereditary enzymopenic methemoglobinemia type II.
Shotelersuk V, Tosukhowong P, Chotivitayatarakorn P, Pongpunlert W
J Med Assoc Thai 2000 Nov;83(11):1380-6. PMID: 11215870
Hereditary methemoglobinemia as a cause of cyanosis during anesthesia.
Gabel RA, Bunn HF
Anesthesiology 1974 May;40(5):516-8. doi: 10.1097/00000542-197405000-00023. PMID: 4822398
Hereditary methemoglobinemia due to diaphorase deficiency. Report of a case of heterozygote presenting with cyanosis after birth.
Lo SS, Hitzig WH, Marti HR
Acta Haematol 1970;43(3):177-83. doi: 10.1159/000208725. PMID: 4986140

Clinical prediction guides

Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
Blood 1990 Apr 1;75(7):1408-13. PMID: 2107882
Decrease of palmitoyl-CoA elongation in platelets and leukocytes in the patient of hereditary methemoglobinemia associated with mental retardation.
Takeshita M, Tamura M, Kugi M, Matsuki T, Yoneyama Y, Igarashi T
Biochem Biophys Res Commun 1987 Oct 14;148(1):384-91. doi: 10.1016/0006-291x(87)91122-3. PMID: 3675585
Enzymopenic hereditary methemoglobinemia: a clinical/biochemical classification.
Jaffé ER
Blood Cells 1986;12(1):81-90. PMID: 3539237
Hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in blood cells without associated neurologic and mental disorders.
Tanishima K, Tanimoto K, Tomoda A, Mawatari K, Matsukawa S, Yoneyama Y, Ohkuwa H, Takazakura E
Blood 1985 Dec;66(6):1288-91. PMID: 4063522
Unstable variant of NADH methemoglobin reductase in Puerto Ricans with hereditary methemoglobinemia.
Schwartz JM, Paress PS, Ross JM, DiPillo F, Rizek R
J Clin Invest 1972 Jun;51(6):1594-601. doi: 10.1172/JCI106957. PMID: 4336945Free PMC Article

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