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.
 

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Condition Specific Organizations

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

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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 100 free, full-text research articles on human participants. First 3 results:

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.
 

Author(s): Xiaoying Xian, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, Fa-Quan Lin

Journal: Cell. Physiol. Biochem.. 2018 ;47(5):1989-1997.

 

Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss.

Last Updated: 31 Dec 1969

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Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
 

Author(s): Nagehan Katipoğlu, Tuba H Karapinar, Korean Demir, Sultan Aydin Köker, Özlem Nalbantoğlu, Yılmaz Ay, Hüseyin A Korkmaz, Yeşim Oymak, Melek Yıldız, Selma Tunç, Filiz Hazan, Canan Vergin, Behzat Ozkan

Journal: Arch Argent Pediatr. 2017 06;115(3):e153-e156.

 

Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous ...

Last Updated: 31 Dec 1969

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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
 

Author(s): Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G Barrett

Journal: Hum. Mutat.. 2017 07;38(7):764-777.

 

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 ...

Last Updated: 31 Dec 1969

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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 6 free, full-text review articles on human participants. First 3 results:

Laboratory testing for cobalamin deficiency in megaloblastic anemia.
 

Author(s): Matthew J Oberley, David T Yang

Journal: Am. J. Hematol.. 2013 Jun;88(6):522-6.

 

Cobalamin (vitamin B12) deficiency is a common cause of megaloblastic anemia in Western populations. Laboratory evaluation of megaloblastic anemia frequently includes the assessment of patient cobalamin and folate status. Current total serum cobalamin measurements are performed in ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia
 

Status: Recruiting

Condition Summary: Megaloblastic Anemia Nos; Pernicious Anemia

 

Last Updated: 27 Dec 2017

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