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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 is extremely rare, with only eight cases documented worldwide.
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.
A case study was done in 1961 on a 7-year-old girl who died of 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. Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States and identified mutations in the TF gene as a probable cause of the disorder.
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.
- Online 'Mendelian Inheritance in Man' (OMIM) 209300
- Hamill, Rl; Woods, Jc; Cook, Ba (August 1991). "Congenital atransferrinemia. A case report and review of the literature". American journal of clinical pathology 96 (2): 215–8. ISSN 0002-9173. PMID 1862777.
- Aslan, D; Crain, K; Beutler, E (2007). "A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene". Acta haematologica 118 (4): 244–7. doi:10.1159/000112726. PMID 18097132.
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- Beutler, E; Gelbart, T; Lee, P; Trevino, R; Fernandez, Ma; Fairbanks, Vf (15 December 2000). "Molecular characterization of a case of atransferrinemia" (Free full text). Blood 96 (13): 4071–4. ISSN 0006-4971. PMID 11110675.