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Atransferrinemia

Field	Value
name	Atransferrinemia
synonyms	familial atransferrinemia
image	autorecessive.svg
caption	Atransferrinemia has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are defective.
symptoms	Anemia
causes	Mutations in the TF gene
diagnosis	TF level, Physical exam
treatment	Oral iron therapy

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.

Genetics

In terms of genetics of atransferrinemia researchers have identified mutations in the TF gene as a probable cause of this genetic disorder in affected people.

Transferrin is a serum transport protein that transports iron to the reticuloendothelial system for utilization and erythropoiesis, since there is no transferrin in atransferrinemia, serum free iron cannot reach reticuloendothelial cells and there is microcytic anemia.

Diagnosis

The diagnosis of atransferrinemia is done via the following means to ascertain if an individual has the condition:

Blood test (for anemia)
TF level
Physical exam
Genetic test

Types

There are two forms of this condition that causes an absence of transferrin in the affected individual:

Acquired atransferrinemia
Congenital atransferrinemia

Treatment

The treatment of atransferrinemia is apotransferrin. The missing protein without iron. Iron treatment is detrimental as it does not correct the anemia and is a cause of secondary hemochromatosis.

References

RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital atransferrinemia".
"OMIM Entry - # 209300 - ATRANSFERRINEMIA".
"Atransferrinemia".
"Atransferrinemia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
(2001). "Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment". Cambridge University Press.
Bartnikas, Thomas Benedict. (1 August 2012). "Known and potential roles of transferrin in iron biology". BioMetals.
Reference, Genetics Home. "TF gene".
"OMIM Entry - * 190000 - TRANSFERRIN; TF".
(2002). "Differential Diagnosis by Laboratory Medicine: A Quick Reference for Physicians". Springer Science & Business Media.
(2012). "Hematology: Diagnosis and Treatment". Elsevier Health Sciences.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

inborn-errors-of-metal-metabolism iron-metabolism autosomal-recessive-disorders congenital-disorders rare-diseases red-blood-cell-disorders

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