Atransferrinemia
Encyclopedia
Atransferrinemia, also called familial hypotransferrinemia, is an autosomal
recessive metabolic disorder in which there is an 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 cell
s are abnormally small and pale). Atransferrinemia is extremely rare, with only eight cases documented worldwide.
s 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
.
A case study
was done in 1961
on a 7-year-old girl
who died of heart failure with atransferrinemia. The half-normal levels of transferrin in her parent
s' bloodstream supported the notion that this disorder is transferred in an autosomal
recessive pattern. Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States
and identified mutation
s in the TF gene as a probable cause of the disorder.
and growth defects.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
recessive metabolic disorder in which there is an absence of transferrin
Transferrin
Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. In humans, it is encoded by the TF gene.Transferrin is a glycoprotein that binds iron very tightly but reversibly...
, a plasma
Blood plasma
Blood plasma is the straw-colored liquid component of blood in which the blood cells in whole blood are normally suspended. It makes up about 55% of the total blood volume. It is the intravascular fluid part of extracellular fluid...
protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that transports iron
Iron
Iron is a chemical element with the symbol Fe and atomic number 26. It is a metal in the first transition series. It is the most common element forming the planet Earth as a whole, forming much of Earth's outer and inner core. It is the fourth most common element in the Earth's crust...
through the blood
Blood
Blood is a specialized bodily fluid in animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells....
.
Atransferrinemia is characterized by anemia
Anemia
Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...
and hemosiderosis
Hemosiderosis
Idiopathic pulmonary haemosiderosis is a lung disease of unknown cause that is characterized by alveolar capillary bleeding and accumulation of haemosiderin in the lungs...
in the heart
Heart
The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
and liver
Liver
The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...
. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic
Microcytic anemia
Microcytic anemia is a generic term for any type of anemia characterized by small red blood cells. The normal mean corpuscular volume is 76-100 fL, with smaller cells as macrocytic....
and hypochromic (the red blood cell
Red blood cell
Red blood cells are the most common type of blood cell and the vertebrate organism's principal means of delivering oxygen to the body tissues via the blood flow through the circulatory system...
s are abnormally small and pale). Atransferrinemia is extremely rare, with only eight cases documented worldwide.
Symptoms
Severe microcytic hypochromic anemia, growth retardation and recurrent infectionInfection
An infection is the colonization of a host organism by parasite species. Infecting parasites seek to use the host's resources to reproduce, often resulting in disease...
s are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas
Pancreas
The pancreas is a gland organ in the digestive and endocrine system of vertebrates. It is both an endocrine gland producing several important hormones, including insulin, glucagon, and somatostatin, as well as a digestive organ, secreting pancreatic juice containing digestive enzymes that assist...
, thyroid
Thyroid
The thyroid gland or simply, the thyroid , in vertebrate anatomy, is one of the largest endocrine glands. The thyroid gland is found in the neck, below the thyroid cartilage...
, kidney
Kidney
The kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and bone joints
Joint
A joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
, leading to mild to severe symptoms of liver
Liver failure
Acute liver failure is the appearance of severe complications rapidly after the first signs of liver disease , and indicates that the liver has sustained severe damage . The complications are hepatic encephalopathy and impaired protein synthesis...
and heart failure, arthropathy
Arthropathy
-Scope:Arthritis is a form of arthropathy that involves inflammation of one or more joints, while the term arthropathy may be used regardless of whether there is inflammation or not.Spondylarthropathy is any form of arthropathy of the vertebral column....
and hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
. Death may occur due to heart failure or pneumonia
Pneumonia
Pneumonia is an inflammatory condition of the lung—especially affecting the microscopic air sacs —associated with fever, chest symptoms, and a lack of air space on a chest X-ray. Pneumonia is typically caused by an infection but there are a number of other causes...
.
Genetics
Case study
A case study is an intensive analysis of an individual unit stressing developmental factors in relation to context. The case study is common in social sciences and life sciences. Case studies may be descriptive or explanatory. The latter type is used to explore causation in order to find...
was done in 1961
1961 in science
The year 1961 in science and technology involved some significant events, listed below.-Astronomy and space exploration:* January 31 - Ham, a 37-pound male chimpanzee, is rocketed into space in a test of the Project Mercury capsule designed to carry U.S. astronauts into space.* April 12 - Yuri...
on a 7-year-old girl
Girl
A girl is any female human from birth through childhood and adolescence to attainment of adulthood. The term may also be used to mean a young woman.-Etymology:...
who died of heart failure with atransferrinemia. The half-normal levels of transferrin in her parent
Parent
A parent is a caretaker of the offspring in their own species. In humans, a parent is of a child . Children can have one or more parents, but they must have two biological parents. Biological parents consist of the male who sired the child and the female who gave birth to the child...
s' bloodstream supported the notion that this disorder is transferred in an autosomal
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
recessive pattern. Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
and identified mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s 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 anemiaAnemia
Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...
and growth defects.