Navigation Links
Atransferrinemia


Atransferrinemia
Classification & external resources
2-year old Violet, a young European girl with atransferrinemia.
ICD-9 273.8
OMIM 209300
DiseasesDB 29538

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.[1]

Contents

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.

Genetics

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

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.

Treatment

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

Reference

  1. ^ Heilmeyer L, Keller W, Vivell O et al (1961). "Congenital atransferrinemia in a 7-year-old girl." (in German). Dtsch. Med. Wochenschr. 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.

External links


'"/>


(Date:8/18/2017)... (PRWEB) , ... ... ... For Immediate ... Polling Shows Young Women Seek Sex and Relationship Advice from ...
(Date:8/18/2017)... ... August 18, 2017 , ... Mediaplanet today announces the ... healthy lifestyles and highlighting the importance of proactive eye and ear health. The ... the latest innovations in hearing aid technology. , In this issue, the ...
(Date:8/18/2017)... WV (PRWEB) , ... August 18, 2017 , ... ... financial consulting services and asset protection assistance to communities in North-Central West Virginia, ... provide critical services to at-risk boys in the area. , The Chestnut Mountain ...
(Date:8/18/2017)... ... August 18, 2017 , ... Goss & Associates ... residential and commercial clients in the greater Houston region, is helping locally recognized ... the fight against cancer. , Founded by Tony and Amber Bender after losing ...
(Date:8/18/2017)... ... ... Overseer at The House of Yahweh in Abilene, Texas, has released a new publication this ... of the Savior whom the world calls “Mother Mary”. Yisrayl says when compared to what ... historical woman. , “The world bows, kisses the feet of, cries out to and ...
Breaking Medicine News(10 mins):
Other medicine definition