Atransferrinemia
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.
| Atransferrinemia | |
|---|---|
| Other names | familial atransferrinemia |
| 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 |
| Diagnostic method | TF level, Physical exam |
| Treatment | Oral iron therapy |
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