Hypotransferrinemia


Hypotransferrinemia, is an autosomal recessive metabolic disorder in which the body produces not enough transferrin, a plasma protein that transports iron through the blood. Once believed to be a synonyme for atransferrinemia today’s science is aware of the fact that hypotransferrinemia is a way more common phenotype of mutations in the HFE- und transferrin genes.
Hypotransferrinemia is characterized by hemosiderosis mostly in the brain, heart, liver, skin and testicles. The iron damages can lead to brain damage, heart failure and other severe damages and dysfunctions.As of 2020 there is still no causal therapy for primary hypotransferrinemia.

Symptoms and signs

The presentation of this disorder entails brain damage, neurological conditions, heart dysfunctions, and any kind of symptoms that arise on the grounds of iron oxidation within human cells caused by non-transferrin bound iron.

Genetics

In terms of genetics of hypotransferrinemia researchers have identified mutations in the TF gene as a probable cause of this genetic disorder in affected people as well as mutations in one of the HFE-genes.
Transferrin is a serum transport protein that transports iron to the reticuloendothelial system for utilization and erythropoiesis. Due to a lack of sufficient transferrin excess iron deposits itself in the brain, heart, liver, skin, testicles and joints causes structural damages.

Diagnosis

The diagnosis of hypotransferrinemia is done via the following means to ascertain if an individual has the condition:
Other than for hemochromatosis or atransferrinemia there are no treatment options available for people suffering from hypotransferrinemia. Only symptomatic treatments can be tried to improve the consequences caused by the overload with non-transferrin bound iron.