atransferrinemia
Sign in to saveAlso known as familial hypotransferrinemia, Congenital hypotransferrinemia, Transferrin Serum Level Quantitative Trait Locus 1, Congenital Atransferrinemia, Hereditary Atransferrinemia, Hypotransferrinemia, Familial
Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood. Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide.
Research
49 papers- [Congenital atransferrinemia].Deutsche medizinische Wochenschrift (1946) · 1994
- Transferrin and transferrin receptors update.Free radical biology & medicine · 2019
- [Atransferrinemia].Ryoikibetsu shokogun shirizu · 1998
- Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia.HemaSphere · 2024
- Congenital atransferrinemia. A case report and review of the literature.American journal of clinical pathology · 1991
via PubMed
Wikidata facts
Show 3 more facts
- exact match
- www.orpha.net/ORDO/Orphanet_1195
- NCI Thesaurus ID
- C125693
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0
~2 min read
Encyclopedic overview
9 sectionsContents
- Symptoms and signs
- Genetics
- Diagnosis
- Types
- Treatment
- See also
- References
- Further reading
- External links
Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood. Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide.
==Symptoms and signs== The presentation of this disorder entails anemia, arthritis, hepatic anomalies, and recurrent infections are clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, and kidney.
Excerpted from Wikipedia’s “atransferrinemia” article, available under the CC BY-SA 4.0 licence.