Atransferrinemia

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Atransferrinemia
Violet atransf.jpg
2-year old Violet, a young European girl with atransferrinemia.
ICD-9 273.8
OMIM 209300
DiseasesDB 29538

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Atransferrinemia is a genetic disorder in which there is 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 is extremely rare, with eight cases documented worldwide.[2]

Pathophysiology

Genetics

A case study was done in 1961 on a 7-year-old girl who passed away from heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an autosomal recessive pattern.[1] Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach for children such as Violet (see picture above), however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States[2] and identified mutations in the TF gene as a probable cause of the disorder.

This condition is inherited in an autosomal recessive pattern, meaning two copies of the gene in each cell are altered.


Diagnosis

Symptoms

Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia.

Treatment

Medical Therapy

Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.

References

  1. Heilmeyer L, Keller W, Vivell O; et al. (1961). "Congenital atransferrinemia in a 7-year-old girl.". Dtsch. Med. Wochenschr. (in German). 86: 1745–51. PMID 13906010. 
  2. Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF (2000). "Molecular characterization of a case of atransferrinemia". Blood. 96 (13): 4071–4. PMID 11110675. 

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