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 (the total absence of transferrin) 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 (genetically caused) hypotransferrinemia.
Q186380
autosomal
Concept
Q3454555
recessive
Concept
Q2351083
metabolic disorder
Concept
Q410473
transferrin
Concept
Q79749
plasma
Concept
Q8054
protein
Concept
Q677
iron
Concept
Q7873
blood
Concept
Q1437472
atransferrinemia
Concept
Q104053
phenotype
Concept
Q42918
mutations
Concept
Q7187
gene
Concept
Q2089854
hemosiderosis
Concept
Q1073
brain
Concept
Q1072
heart
Concept
Q9368
liver
Concept
Q1074
skin
Concept
Q720026
brain damage
Concept
Q181754
heart failure
Concept
Q85767883
Hypotransferrinemia
Concept
Q85767883
Hypotransferrinemia
Concept
2020-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
2020
DATE
instance of
part of