Navigation Links

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]



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.


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


  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:7/31/2014)... 31, 2014 (HealthDay News) -- Many black women put ... new research. It,s estimated by the U.S. Centers ... five black women in the United States are overweight ... entirely to avoid having to have their hair restyled ... study authors said. However, the researchers also noted a ...
(Date:7/31/2014)... published today in Genes & Development , ... Centre,s DNA Replication group, in collaboration with Brookhaven ... mechanisms involved in the enzyme that governs DNA ... system using synthetic, chemical and structural biology approaches, ... in duplicating genetic information embraces DNA through a ...
(Date:7/31/2014)... LDM Global ( ) announces ... is simplified and predictable with fixed fees across the ... leading international provider of legal discovery management services for ... glaringly apparent that both the courts and legal counsel ... the complex pricing structure that plagues the litigation support ...
(Date:7/31/2014)... 2014 The Alaska Center for ... new dentist Dr. Jonathan Oudin, DDS, who will begin ... in Barrow, Alaska, for three years. According to Teresa ... Dr. Oudin to help take on new patients. , ... continue growing and serving the greater Anchorage metro community," ...
(Date:7/31/2014)... July 31, 2014 (HealthDay News) -- Transplant surgeons ... red flags for burnout, a new study suggests. ... the study reported having a low sense of ... to feeling emotionally exhausted, researchers found. "Burnout ... like transplantation," study co-author Dr. Marwan Abouljoud, director ...
Breaking Medicine News(10 mins):Health News:Hairdo Trumps Exercise for Many Black Women, Study Finds 2Health News:Molecular gate that could keep cancer cells locked up 2Health News:LDM Global Announces Predictable Simple Fixed-Fee Pricing 2Health News:Dr. Jonathan Oudin to Join Alaska Center for Dentistry at Wasilla Location 2Health News:Burnout Common Among Transplant Surgeons, Study Reveals 2
... , MONDAY, Nov. 29 (HealthDay News) -- Genetics influence a ... have the greatest impact in the summer, the results of ... to maintain health and for strong bones, is naturally made ... not contain vitamin D unless it,s added by fortification. ...
... Children and teens who are overexposed to antibacterial soaps that ... hay fever and other allergies, a finding that suggests that ... The study also found that exposure to higher levels ... immune system. Triclosan is an antimicrobial agent widely used ...
... November 2010 Reduced male fertility may be making it ... low birth rates in many countries, reveals a new European ... 10% of couples worldwide are infertile, contributing to the growing ... (IVF) for which Robert G. Edwards won the Nobel Prize ...
... In a first-of-its-kind study to measure the impact of ... care unit, researchers at the University of Maryland School ... physicians and other health care professionals can enhance patient ... The results of the study have been released ...
... of people infected with HIV/AIDS in sub-Saharan Africa is ... the end of the decade, forcing African nations to ... of lifesaving antiretroviral therapy (ART), says a new report ... a renewed emphasis on reducing the rate of new ...
... A UCSF research collaboration with GE Healthcare has produced the ... to rapidly assess the presence and aggressiveness of prostate tumors ... is the first time researchers have used this technology to ... a revolutionary approach to assessing the precise outlines of a ...
Cached Medicine News:Health News:Too Much Hygiene May Affect Immune System, Study Suggests 2Health News:Male reproductive problems may add to falling fertility rates 2Health News:More lives saved with 24/7 enhanced staffing in medical ICU 2Health News:More lives saved with 24/7 enhanced staffing in medical ICU 3Health News:More lives saved with 24/7 enhanced staffing in medical ICU 4Health News:Number of HIV/AIDS cases in sub-Saharan Africa expected to greatly outpace resources 2Health News:Number of HIV/AIDS cases in sub-Saharan Africa expected to greatly outpace resources 3Health News:New prostate cancer imaging shows real-time tumor metabolism 2Health News:New prostate cancer imaging shows real-time tumor metabolism 3Health News:New prostate cancer imaging shows real-time tumor metabolism 4
Other medicine definitionOther Tags