Hereditary atransferrinaemia and hypotransferrinaemia

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Classification according to ICD-10
E83.1 Iron metabolism disorders
hemochromatosis
ICD-10 online (WHO version 2019)

The hereditary or congenital atransferrinemia and the hypotransferrinemia are rare, usually congenital (congenital) metabolic diseases characterized by a lack of transferrin . The cause is gene mutations in the transferrin or the HFE genes , so that either too little or no transferrin is formed. The disease is usually inherited as an autosomal recessive trait.

Clinical consequences

A distinction is made between absolute and relative transferrin deficiency.

Absolute deficiency (atransferrinaemia)

Individuals suffering from congenital complete atransferrinaemia are generally not viable because too little iron is transported to the locations where the erythrocytes are formed ( erythropoiesis ).

Relative deficiency (hypotransferrinaemia)

Those people whose bodies produce too little transferrin due to various possible gene mutations (or, more rarely, other causes) ( hypotransferrinaemia ) accumulate iron that is not bound to proteins (NTBI iron) in their organs, especially in the liver , the brain and the heart . This leads to a slowly progressing pathological iron deposition and finally to iron overload ( hemosiderosis ) with corresponding functional disorders or structural organ damage. The clinical picture is heterogeneous in the dimensions of symptoms, severity and course and primarily affects the specialist areas of neurology , hepatology , cardiology , dermatology , immunology and endocrinology . No causal therapy is known.

Further information

  • Hereditary atransferrinaemia and hypotransferrinaemia.  In: Online Mendelian Inheritance in Man . (English)
  • NC Andrews: Disorders of iron metabolism. In: N Engl J Med . Volume 341, No. 26, Dec 23, 1999, pp. 1986-1995. PMID 10607817
  • D. Ganten, K. Ruckpaul: Handbook of Molecular Medicine, 12 Vols., Volume 6: Selected monogenic hereditary diseases. 1st edition. Springer 1999, ISBN 3-540-65529-8 , p. 459.
  • A. Klucken, H. Jaskolka: Neurodegeneration with iron deposition in the brain (Neurodegeneration with Brain Iron Accumulation [NBIA]). Patient-oriented disease description from the ACHSE network. May 2017
  • Irwin M. Arias, Allan W. Wolkoff, James L. Boyer, David A. Shafritz et al: The Liver: Biology and Pathobiology. Fifth Edition. John Wiley & Sons, 2011

credentials

  1. ^ RL Hamill et al.: Congenital atransferrinemia. A case report and review of the literature . In: Am J Clin Pathol . Volume 96, No. 2, Aug 1991, pp. 215-218. PMID 1862777
  2. ↑ Irwin M. Arias, Allan W. Wolkoff, James L. Boyer, David A. Shafritz et al: The Liver: Biology and Pathobiology. Fifth Edition. John Wiley & Sons, 2011.
  3. ↑ K. Pantopoulos (2018) Inherited Disorders of Iron Overload. Front. Nutr. 5: 103. DOI: 10.3389 / fnut.2018.00103
  4. ↑ Marie-Pascale Beaumont-Epinette, Jean-Bernard Delobel, Martine Ropert, Yves Deugnier, Olivier Loréal, et al .. Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload. Blood Cells, Molecules and Diseases, Elsevier, 2015, 54 (2), pp. 151-154. 10.1016 / j.bcmd.2014.11.020
  5. ^ MD Knutson: Non-transferrin-bound iron transporters. Free Radic Biol Med. 2018 Oct 12. pii: S0891-5849 (18) 32176-2. DOI: 10.1016 / j.freeradbiomed.2018.10.413
  6. ↑ Mc Carthy et al: Inflammation-induced iron transport and metabolism by brain microglia. J Biol Chem. 293 (20), May 18, 2018, pp. 7853-7863. DOI: 10.1074 / jbc.RA118.001949 . Epub 2018 Apr 2
  7. ↑ Cabantchik, Zvi I .: Labile iron in cells and body fluids: physiology, pathology, and pharmacology. Front. Pharmacol., March 2014.
  8. ↑ A. Hayashi, Y. Wada, T. Suzuki, Shimizu A. Studies on familial hypotransferrinemia: Unique clinical course and molecular pathology. At the J Hum Genet. (1993) 53: 201-13.
  9. ↑ R. Athiyarath, N. Arora, F. Fuster, R. Schwarzenbacher, Ahmed R, George B et al: Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anemia and haemosiderosis. Molecular characterization and structural implications. Br J Haematol. (2013) 163: 404-7. DOI: 10.1111 / bjh.12487
  10. ↑ A. Klucken, H. Jaskolka: Neurodegeneration with iron deposition in the brain (Neurodegeneration with Brain Iron Accumulation [NBIA]). Patient-oriented disease description from the ACHSE network. May 2017.