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Methemoglobinemia, alpha type

MedGen UID:
1635511
Concept ID:
C4693798
Disease or Syndrome
Synonym: METHEMOGLOBINEMIA, ALPHA TYPE
 
Gene (location): HBA1 (16p13.3)
 
Monarch Initiative: MONDO:0020835
OMIM®: 617973

Definition

Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (141900) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). [from OMIM]

Clinical features

From HPO
Methemoglobinemia
MedGen UID:
6339
Concept ID:
C0025637
Disease or Syndrome
Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

Professional guidelines

PubMed

Hall AH, Kulig KW, Rumack BH
Med Toxicol 1986 Jul-Aug;1(4):253-60. doi: 10.1007/BF03259842. PMID: 3537620

Recent clinical studies

Diagnosis

Shin C, Hong M, Kim M, Lee JH
BMC Pediatr 2019 Jul 3;19(1):221. doi: 10.1186/s12887-019-1601-9. PMID: 31269924Free PMC Article
Hall AH, Kulig KW, Rumack BH
Med Toxicol 1986 Jul-Aug;1(4):253-60. doi: 10.1007/BF03259842. PMID: 3537620

Therapy

Hall AH, Kulig KW, Rumack BH
Med Toxicol 1986 Jul-Aug;1(4):253-60. doi: 10.1007/BF03259842. PMID: 3537620
Hirano M, Matsuki T, Tanishima K, Takeshita M, Shimizu S, Nagamura Y, Yoneyama Y
Br J Haematol 1981 Mar;47(3):353-9. doi: 10.1111/j.1365-2141.1981.tb02802.x. PMID: 6893937

Prognosis

Nussenzveig RH, Lingam HB, Gaikwad A, Zhu Q, Jing N, Prchal JT
Haematologica 2006 Nov;91(11):1542-5. PMID: 17082011
Jenkins MM, Prchal JT
Blood 1996 Apr 1;87(7):2993-9. PMID: 8639921

Clinical prediction guides

Nussenzveig RH, Lingam HB, Gaikwad A, Zhu Q, Jing N, Prchal JT
Haematologica 2006 Nov;91(11):1542-5. PMID: 17082011
Jenkins MM, Prchal JT
Blood 1996 Apr 1;87(7):2993-9. PMID: 8639921
Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
Blood 1990 Apr 1;75(7):1408-13. PMID: 2107882

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