Atransferrinemia

(Redirected from Atransferrinaemia)
Jump to navigation Jump to search
Atransferrinemia
2-year old Violet, a young European girl with atransferrinemia.
ICD-9 273.8
OMIM 209300
DiseasesDB 29538

WikiDoc Resources for Atransferrinemia

Articles

Most recent articles on Atransferrinemia

Most cited articles on Atransferrinemia

Review articles on Atransferrinemia

Articles on Atransferrinemia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Atransferrinemia

Images of Atransferrinemia

Photos of Atransferrinemia

Podcasts & MP3s on Atransferrinemia

Videos on Atransferrinemia

Evidence Based Medicine

Cochrane Collaboration on Atransferrinemia

Bandolier on Atransferrinemia

TRIP on Atransferrinemia

Clinical Trials

Ongoing Trials on Atransferrinemia at Clinical Trials.gov

Trial results on Atransferrinemia

Clinical Trials on Atransferrinemia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Atransferrinemia

NICE Guidance on Atransferrinemia

NHS PRODIGY Guidance

FDA on Atransferrinemia

CDC on Atransferrinemia

Books

Books on Atransferrinemia

News

Atransferrinemia in the news

Be alerted to news on Atransferrinemia

News trends on Atransferrinemia

Commentary

Blogs on Atransferrinemia

Definitions

Definitions of Atransferrinemia

Patient Resources / Community

Patient resources on Atransferrinemia

Discussion groups on Atransferrinemia

Patient Handouts on Atransferrinemia

Directions to Hospitals Treating Atransferrinemia

Risk calculators and risk factors for Atransferrinemia

Healthcare Provider Resources

Symptoms of Atransferrinemia

Causes & Risk Factors for Atransferrinemia

Diagnostic studies for Atransferrinemia

Treatment of Atransferrinemia

Continuing Medical Education (CME)

CME Programs on Atransferrinemia

International

Atransferrinemia en Espanol

Atransferrinemia en Francais

Business

Atransferrinemia in the Marketplace

Patents on Atransferrinemia

Experimental / Informatics

List of terms related to Atransferrinemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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.[2]

Pathophysiology

Genetics

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.

File:Autorecessive.svg

Diagnosis

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.

Treatment

Medical Therapy

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

References

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


Template:WikiDoc Sources