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Genetics Home Reference: your guide to understanding genetic conditions
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Methemoglobinemia, beta-globin type

Reviewed February 2007

What is methemoglobinemia, beta-globin type?

Beta-globin type methemoglobinemia is an inherited blood disorder. It disrupts the function of hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Methemoglobinemia is characterized by increased levels of an atypical form of hemoglobin that is unable to deliver oxygen efficiently.

In most individuals with beta-globin type methemoglobinemia, the only symptom is cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails due to a lack of oxygen in the blood. Symptoms may appear as early as age 3 to 4 months. Methemoglobinemia symptoms do not improve when affected individuals are given additional oxygen, because oxygen cannot bind effectively to the abnormal hemoglobin.

How common is methemoglobinemia, beta-globin type?

The incidence of beta-globin type methemoglobinemia is unknown.

What genes are related to methemoglobinemia, beta-globin type?

Mutations in the HBB gene cause methemoglobinemia, beta-globin type.

Hemoglobin consists of four protein subunits and four iron-containing molecules called heme. Heme molecules are necessary for red blood cells to pick up oxygen in the lungs and release oxygen to other cells in the body. Hemoglobin typically has two protein subunits call alpha-globin and two protein subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Mutations in specific regions of the HBB gene lead to an atypical version of beta-globin known as hemoglobin M. Hemoglobin M interacts abnormally with heme molecules, which impairs the uptake of oxygen by red blood cells. As a result, a reduced amount of oxygen is delivered to cells throughout the body.

Other types of methemoglobinemia can be caused by abnormal alpha-globin, a shortage of a particular enzyme called NADH-cytochrome b5 reductase, or unusual reactions to certain drugs or chemicals.

Related Gene(s)

Changes in this gene are associated with methemoglobinemia, beta-globin type.

  • HBB

How do people inherit methemoglobinemia, beta-globin type?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Where can I find information about diagnosis or management of methemoglobinemia, beta-globin type?

These resources address the diagnosis or management of methemoglobinemia, beta-globin type, and may include treatment providers.

  • Genetic Testing Registry: Methemoglobinemia, beta-globin type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840779)
  • MedlinePlus Encyclopedia: Methemoglobinemia (http://www.nlm.nih.gov/medlineplus/ency/article/000562.htm)

You might also find information on the diagnosis or management of methemoglobinemia, beta-globin type, in Educational resources (http://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about methemoglobinemia, beta-globin type?

You may find the following resources about methemoglobinemia, beta-globin type, helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for methemoglobinemia, beta-globin type?

  • blue baby syndrome
  • congenital methemoglobinemia
  • hemoglobin M disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about methemoglobinemia, beta-globin type?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding methemoglobinemia, beta-globin type?

atypical ; autosomal ; autosomal dominant ; cell ; congenital ; cyanosis ; enzyme ; gene ; heme ; hemoglobin ; hemoglobin M ; incidence ; inherited ; iron ; molecule ; mucous ; oxygen ; protein ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Kedar PS, Nadkarni AH, Phanasgoankar S, Madkaikar M, Ghosh K, Gorakshakar AC, Colah RB, Mohanty D. Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. Am J Hematol. 2005 Jun;79(2):168-70. (http://www.ncbi.nlm.nih.gov/pubmed/15929117?dopt=Abstract)
  • Mansouri A, Lurie AA. Concise review: methemoglobinemia. Am J Hematol. 1993 Jan;42(1):7-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/8416301?dopt=Abstract)
  • Percy MJ, McFerran NV, Lappin TR. Disorders of oxidised haemoglobin. Blood Rev. 2005 Mar;19(2):61-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15603910?dopt=Abstract)
  • Rehman HU. Methemoglobinemia. West J Med. 2001 Sep;175(3):193-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11527852?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2007
Published: January 27, 2015