ICD-10 E88.0 OMIM 209300 MeSH C538259 | ICD-9-CM 273.8 DiseasesDB 29538 | |
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Atransferrinemia, also called familial hypotransferrinemia, 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.
Contents
Types
There are two forms of this condition that causes an absence of transferrin in the affected individual:
Symptoms
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. Also, this excess iron deposits itself in the heart, liver and joints, and causes damage. Ferritin, the storage form of iron gets secreted more into the bloodstream so as to bind with the excessive free iron and hence serum ferritin levels rise in this condition
Diagnosis
The diagnosis of atransferrinemia is done via the following means to ascertain if an individual has the condition:
Treatment
In terms of treatment of atransferrinemia, iron supplements (oral iron therapy) are the preferred choice, one finds that RBC transfusions are very infrequently needed.