Atransferrinemia

Atransferrinemia
Synonyms	familial atransferrinemia
Pronounce
Field
Symptoms	Anemia<ref name=gar/>
Complications
Onset
Duration
Types
Causes	Mutations in the TF gene<ref name=orp/>
Risks
Diagnosis	TF level, Physical exam<ref name=orp/>
Differential diagnosis
Prevention
Treatment	Oral iron therapy<ref name=iro/>
Medication
Prognosis
Frequency
Deaths

Atransferrinemia, not to be confused with hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.<ref name="orp"> RESERVED, INSERM US14 -- ALL RIGHTS. Orphanet: Congenital atransferrinemia(link). www.orpha.net.

Accessed 2017-02-20.

</ref><ref>

OMIM Entry - # 209300 - ATRANSFERRINEMIA(link). omim.org.

</ref> 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.<ref name="NORD">

Atransferrinemia(link). National Organization for Rare Disorders.

</ref>

Symptoms and signs

The presentation of this disorder entails anemia, arthritis, hepatic anomalies, and recurrent infections are clinical signs of the disease.<ref name="gar">

Atransferrinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program(link). rarediseases.info.nih.gov.

Accessed 2017-02-20.

</ref> Iron overload occurs mainly in the liver, heart, pancreas, thyroid, and kidney <ref>,

 Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment. online version, 
  
 212:Cambridge University Press, 
  
  
  
 ISBN 9780521593809,</ref>

Genetics

Protein TF (from TF gene)

In terms of genetics of atransferrinemia researchers have identified mutations in the TF gene as a probable cause of this genetic disorder in affected people.<ref name=orp/>

Transferrin is a serum transport protein that transports iron to the reticuloendothelial system for utilization and erythropoiesis, since there is no transferrin in atransferrinemia, serum free iron cannot reach reticuloendothelial cells and there is microcytic anemia.<ref>,

 Known and potential roles of transferrin in iron biology, 
 BioMetals, 
 
 Vol. 25(Issue: 4),
 pp. 677–686,
 DOI: 10.1007/s10534-012-9520-3,
 PMID: 22294463,
 PMC: 3595092,</ref><ref>

Reference, Genetics Home. TF gene(link). Genetics Home Reference.

Accessed 2017-02-20.

</ref><ref>

OMIM Entry - * 190000 - TRANSFERRIN; TF(link). omim.org.

</ref> Also, this excess iron deposits itself in the heart, liver and joints, and causes damage. Ferritin, the storage form of iron gets secreted more into the bloodstream so as to bind with the excessive free iron and hence serum ferritin levels rise in this conditionTemplate:Medical citation needed

Diagnosis

Anemia

The diagnosis of atransferrinemia is done via the following means to ascertain if an individual has the condition:<ref name=orp/>

• Blood test(for anemia)
• TF level
• Physical exam
• Genetic test

Types

There are two forms of this condition that causes an absence of transferrin in the affected individual:<ref>,

 Differential Diagnosis by Laboratory Medicine: A Quick Reference for Physicians. online version, 
  
 Springer Science & Business Media, 
  
  
  
 ISBN 9783540430575,</ref>

• Acquired atransferrinemia
• Congenital atransferrinemia

Treatment

RBC

The treatment of atransferrinemia is apotransferrin. The missing protein without iron. Iron treatment is detrimental as it does not correct the anemia and is a cause of secondary hemochromatosis.<ref name="iro">,

 Hematology: Diagnosis and Treatment. online version, 
  
 Elsevier Health Sciences, 
  
  
  
 ISBN 978-1455740413,</ref>

See also

• Transferrin

Further reading

• Robert I.,

 Blood: Principles and Practice of Hematology. online version, 
  
 Lippincott Williams & Wilkins, 
  
  
  
 ISBN 9780781719933,

• Joseph,

 Manual of Clinical Hematology. online version, 
  
 Lippincott Williams & Wilkins, 
  
  
  
 ISBN 9780781729802,

External links

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