Megaloblastic anemia

Common Name(s)

Megaloblastic anemia, Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megaloblastic anemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megaloblastic anemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Megaloblastic anemia" returned 66 free, full-text research articles on human participants. First 3 results:

Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
 

Author(s): Nosrat Ghaemi, Martha Ghahraman, Mohammad Reza Abbaszadegan, Alireza Baradaran-Heravi, Rahim Vakili

Journal: J Clin Res Pediatr Endocrinol. 2013 Sep;5(3):199-201.

 

Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated ...

Last Updated: 27 Sep 2013

Go To URL
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
 

Author(s): Aria Setoodeh, Amirreza Haghighi, Nasrollah Saleh-Gohari, Sian Ellard, Alireza Haghighi

Journal: Gene. 2013 May;519(2):295-7.

 

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian ...

Last Updated: 1 Apr 2013

Go To URL
Diphyllobothrium pacificum infection is seldom associated with megaloblastic anemia.
 

Author(s): Juan A Jimenez, Silvia Rodriguez, Ricardo Gamboa, Lourdes Rodriguez, Hector H Garcia,

Journal: Am. J. Trop. Med. Hyg.. 2012 Nov;87(5):897-901.

 

Twenty cases of Dyphillobothrium pacificum (fish tapeworm) infections were prospectively studied to determine whether this tapeworm is associated with megaloblastic anemia, as commonly reported for D. latum infections. The most frequent symptoms were fatigue and mild abdominal pain, ...

Last Updated: 8 Nov 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Megaloblastic anemia" returned 4 free, full-text review articles on human participants. First 3 results:

Megaloblastic anemia and other causes of macrocytosis.
 

Author(s): Florence Aslinia, Joseph J Mazza, Steven H Yale

Journal: Clin Med Res. 2006 Sep;4(3):236-41.

 

Last Updated: 21 Sep 2006

Go To URL
Megaloblastic anemia associated with psoriasis: case report and review of the literature.
 

Author(s): A Iwama, A Miwa, T Suzuki, H Ema, T Suda, S Sakamoto, Y Miura

Journal: Intern. Med.. 1992 Jan;31(1):127-30.

 

A 68-yr-old male with severe psoriasis developed megaloblastic anemia due to folate deficiency 3 months after the cessation of low-dose methotrexate therapy. The mechanism of megaloblastic anemia in this case was suggested to be multifactorial. The case report and a review of megaloblastic ...

Last Updated: 28 May 1992

Go To URL
A case of vitamin B12 deficiency megaloblastic anemia following total gastrectomy.
 

Author(s): J S Hahn, D K Nam, E J Lee, S J Lee, Y W Ko, I N Sunwoo, K S Lee

Journal: Yonsei Med. J.. 1988 ;29(3):270-7.

 

Last Updated: 11 Jan 1989

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.