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:9/16/2014)... (PRWEB) September 16, 2014 The rapidly ... concern for health plans, employers and PBMs as spending ... of their drug lists. Once a concentrated, patient-specific practice, ... 25 webinar from Atlantic Information Services, Inc. (AIS), ... will offer details of what one leading health ...
(Date:9/16/2014)... The Living Ethics lecture series returns ... on what it means to live in an ethically ... and thought-provoking topics. , “The Museum’s job is to ... at their world differently. The Living Ethics series’ ... truly enlightening dialogue,” says Richard Conti, Chief Wonder Officer, ...
(Date:9/16/2014)... Botanica Day Spa ... kicking off September with fall-themed discounts and giveaways. ... chose to highlight lumablanc® which contains Pevonia’s exclusive ... with the skin. , Lumablanc® was recently released ... anti-aging line. The brightening formula, containing a blend ...
(Date:9/16/2014)... Reading, MA (PRWEB) September 16, 2014 ... announce its partnership with Fairfax Egg Bank. The collaboration ... and expand the donor egg offering at the Fertility ... operated since 2006 and offers the nation’s largest selection ... is advantageous for several reasons:, , ...
(Date:9/15/2014)... 2014 With the variety of drugs ... to know the details on each one. However, it ... substances falling into their teen’s hands. , Synthetic ... among high school students. With varied, misleading and potentially ... it can be difficult for parents to separate the ...
Breaking Medicine News(10 mins):Health News:Sept. 25 Webinar to Offer Health Plan, Employer Strategies to Control Compounded Medication Costs 2Health News:Expanding Community Vision at the Science Museum of Virginia 2Health News:Botanica Day Spa Rolls Out September Specials Highlighting Lumablanc® by Pevonia 2Health News:Botanica Day Spa Rolls Out September Specials Highlighting Lumablanc® by Pevonia 3Health News:FCNE Announces Partnership with Fairfax Egg Bank 2Health News:Teen Rehab Center CEO Releases Top 4 Facts Parents Must Know About Synthetic Marijuana 2Health News:Teen Rehab Center CEO Releases Top 4 Facts Parents Must Know About Synthetic Marijuana 3
... today that the United States Food and,Drug Administration ... first LDL cholesterol lowering medication also indicated for,improving ... mellitus (DM) in,combination with metformin, sulfonylureas, or insulin, ... with other anti-diabetic agents., The ADA estimates ...
... by New York City Mayor,Michael Bloomberg, Lance Armstrong ... discussed Lance,s request to the Surgeons General,Collective to ... "This year alone, 1.4 million Americans are expected ... lose their lives to the disease," said,Lance Armstrong, ...
... Diego Supercomputer Center and other parts of the University ... Disease, fusion energy and climate change - were awarded ... as part of its 2008 Innovative and Novel Computational ... total, the DOEs Office of Science awarded a record ...
... seeds, chemo wafers slowed disease, boosted survival , , ... radioactive seeds and chemotherapy wafers following surgery shows ... study finds. , The early-phase clinical trial, led ... University of Cincinnati and University Hospital, included 34 ...
... Postings Part of Available Resources-, JACKSONVILLE, Fla., ... this group of returning wounded veterans are the ... Project has expanded,their ever-evolving battery of programs and ... (WtoW) initiative., The Warriors to Work (WtoW) ...
... this morning that Chairman and CEO Fred Hassan,intends ... million of Schering-Plough,Common Shares with personal funds., ... I purchased $4.68 million in,Schering-Plough Common Shares at ... this investment in Schering-Plough reflects my long-term,confidence in ...
Cached Medicine News:Health News:MultiVu Video Feed: WELCHOL (R) (COLESEVELAM HCL) RECEIVES FDA APPROVAL FOR GLUCOSE CONTROL IN ADULTS WITH TYPE 2 DIABETES MELITUS 2Health News:Lance Armstrong and 17th U.S. Surgeon General Carmona Announce National Call to Action in the War Against Cancer 2Health News:Lance Armstrong and 17th U.S. Surgeon General Carmona Announce National Call to Action in the War Against Cancer 3Health News:DOE awards supercomputing time to UCSD, SDSC researchers 2Health News:DOE awards supercomputing time to UCSD, SDSC researchers 3Health News:Combo Therapy Shows Promise in Treating Brain Tumors 2Health News:Wounded Warrior Project (WWP) Expands Service Offerings for Injured Soldiers with the New 'Warriors to Work' Program 2Health News:Schering-Plough CEO to Buy $2 Million in Common Shares 2Health News:Schering-Plough CEO to Buy $2 Million in Common Shares 3
Other medicine definitionOther Tags