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:8/31/2020)... ... August 31, 2020 , ... Dr. Chang has ... with autism and other developmental disabilities, as well as supporting staff in caring ... with autism, school consultation, and staff development. She joined the company in 2015 ...
(Date:8/29/2020)... , ... August 29, 2020 , ... When professor and ... with greater ease than most people would. Rather than become melancholic, however, he put ... advice on achieving one’s dreams. Randy Pausch took a negative situation and turned it ...
(Date:8/28/2020)... ... August 28, 2020 , ... WHAT , ... treat patients with respiratory conditions, including COVID-19, while reducing the need for scarce ... it captures exhaled gas and scrubs it free of carbon dioxide in a ...
(Date:8/28/2020)... GROVE, Ill. (PRWEB) , ... August 28, 2020 ... ... COVID-19, The Nourished Group set out to continue helping the specialty-diet ... attendees can discover new gluten-free products, get coupons, enter giveaways, chat with brands ...
(Date:8/28/2020)... , ... August 28, 2020 , ... ... in advising Adventist Health on its investment in Synchronous Health, a tech-enabled behavioral ... that combines the strength of human empathy with artificial intelligence (AI) to increase ...
Breaking Medicine News(10 mins):
Other medicine definition