Inherited bone marrow failure syndromes - Not a rare disease
The inherited bone marrow failure syndromes (IBMFS) are a group of rare genetic blood disorders in which there is usually some form of aplastic anemia (failure of the bone marrow to produce blood), associated with a family history of the same disorder. Some of these conditions have typical changes in physical appearance or in laboratory findings which suggest a specific diagnosis. There are several well-described syndromes, which can be recognized by health care experts. There are also patients who are harder to classify, but who appear to belong in this category. Patients with these syndromes have a very high risk of development of cancer (either leukemia or certain solid tumors).
The major disorders are:
- Amegakaryocytic thrombocytopenia (Amega)
- Diamond Blackfan anemia (DBA)
- Dyskeratosis congenita (DC)
- Fanconi anemia (FA)
- Pearson syndrome
- Severe congenital neutropenia (SCN)
- Shwachman Diamond syndrome (SDS)
- Thrombocytopenia absent radii (TAR)
NIH genetic and rare disease info[edit source]
Inherited bone marrow failure syndromes - Not a rare disease is a rare disease.
Inherited bone marrow failure syndromes - Not a rare disease Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju