U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

METHEMOGLOBINEMIA, BETA TYPE

MedGen UID:
333645
Concept ID:
C1840779
Disease or Syndrome
Synonym: Methemoglobinemia, beta-globin type
 
Gene (location): HBB (11p15.4)
 
OMIM®: 617971

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 (141800), cyanosis is apparent at birth, whereas if the beta chain 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]

Additional description

From MedlinePlus Genetics
Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.  https://medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type

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

Lavonas EJ, Akpunonu PD, Arens AM, Babu KM, Cao D, Hoffman RS, Hoyte CO, Mazer-Amirshahi ME, Stolbach A, St-Onge M, Thompson TM, Wang GS, Hoover AV, Drennan IR; American Heart Association
Circulation 2023 Oct 17;148(16):e149-e184. Epub 2023 Sep 18 doi: 10.1161/CIR.0000000000001161. PMID: 37721023
Hall AH, Kulig KW, Rumack BH
Med Toxicol 1986 Jul-Aug;1(4):253-60. doi: 10.1007/BF03259842. PMID: 3537620

Recent clinical studies

Therapy

Naguib M, Magboul MM, Samarkandi AH, Attia M
Drug Saf 1998 Apr;18(4):221-50. doi: 10.2165/00002018-199818040-00001. PMID: 9565736
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...