Hemochromatosis

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What is hemochromatosis?

Hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hemochromatosis is also called an iron overload disorder.

Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.

Hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Hemochromatosis type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) are adult-onset disorders. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.

Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may begin to appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or sex hormone deficiency symptoms such as impotence. If the disorder is untreated, heart disease is evident by age 30. Onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30.

In rare cases, iron overload begins before birth. These cases are called neonatal hemochromatosis. This type of hemochromatosis progresses rapidly and is characterized by liver damage that is apparent at birth or in the first day of life.

How common is hemochromatosis?

Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide.

What genes are related to hemochromatosis?

Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hemochromatosis.

The HAMP, HFE, HFE2, SLC40A1, and TFR2 genes play an important role in regulating the absorption, transport, and storage of iron. Mutations in these genes impair the control of iron absorption during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions.

Each type of hemochromatosis is caused by mutations in a specific gene. Type 1 hemochromatosis is caused by mutations in the HFE gene, and type 2 hemochromatosis is caused by mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis. The cause of neonatal hemochromatosis is unknown.

How do people inherit hemochromatosis?

Hemochromatosis types 1, 2, and 3 are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs or symptoms of the disorder.

Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

The inheritance pattern of neonatal hemochromatosis is unknown.

Source: National Institutes of Health

Talecris Biotherapeutics Awards Winners of the 4th European ALTA Fellowship Program

The 2007 eALTA award winners are Karin Francisca Kok, M.D., from the University Medical Center Nijmwegen, Netherlands and Tomas Patrick Carroll, Ph.D., from the Royal College of Surgeons in Dublin, Ireland. Dr. Kok's research project is entitled "Heterozygosity for Alpha-1 Antitrypsin Deficiency: underestimated in chronic liver disease?" and will focus on improving the understanding of the relationship between alpha-1 antitrypsin (AAT) genotype PiMZ and chronic liver disease. This project is of particular importance since about 1 in 20 individuals are heterozygous for PiMZ and might be adversely affected if also presenting with a chronic liver disease such as hepatitis C and hemochromatosis. Dr. Carroll's project, "Immune Cell Function in Alpha-1 Antitrypsin Deficiency," investigates the relationship between mutated protein PiZ that accumulates in the endoplasmic reticulum and the function of immune cells such as monocytes and neutrophils. If the immune cells are less active, this mechanism might contribute to the overall inflammatory disease process. Annual funding for the eALTA research projects of $65,000 each, is provided by Talecris Biotherapeutics.

Professor Claus Vogelmeier, Division of Pulmonary Diseases, Philipps University Marburg, and chair of the eALTA scientific review board, commented on the value of the eALTA program. "This important program provides opportunities for qualified early career researchers to contribute to our understanding of alpha-1 antitrypsin deficiency. We are very pleased with the quality of the research produced by eALTA recipients, and we appreciate the ongoing commitment by Talecris Biotherapeutics to support this important program in Europe. I look forward to hearing from our 2007 awardees at next year's symposium."

The eALTA fellowship awards support basic and clinical research for early career investigators looking into the pathophysiology, clinical course, or treatment of AATD, a serious hereditary disorder that can result in life-threatening liver disease in children and adults, or lung disease in adults. The eALTA fellowships support investigations for one year that will provide additional insights into improving the diagnosis, care, and treatment of AATD.

"The European ALTA program is an important way in which we support ongoing global research into alpha-1 antitrypsin deficiency," said Marion Wencker, Head of Medical and Clinical Affairs Europe, Talecris Europe, headquartered in Frankfurt, Germany. "Research initiatives such as eALTA not only increase our understanding of the disease and its treatment, but also help stimulate the interest and commitment of early career scientists and clinicians who represent the future of providing care for the alpha-1 community." To date, more than $500,000 has been provided by Talecris Biotherapeutics for the purposes of setting up and supporting innovative scientific projects for emerging researchers and medical students.

Applications are assessed according to four criteria: scientific merit, innovation, impact of the project, and quality of research environment. The scientific review board for grant applications consists of five European experts in the field of AATD and Marion Wencker. The new program cycle for the 2008 awards has begun, and submissions of letters of intent will be accepted through March 1, 2008. Details of the application process and deadlines can be found on www.alta-award.com.

In addition to research initiatives such as eALTA, Talecris Biotherapeutics sponsors numerous patient and professional programs and services to increase disease awareness, and support product access and adequate reimbursement for the alpha-1 community.

To download this text, please visit www.alta-award.com/news.

Keywords: Alpha 1-Antitrypsin Deficiency, Biopharmaceuticals, Biotechnology, Biotechnology Business, Biotechnology Company, Chronic Liver Disease, Hepatology, Inflammation, Liver Disease, Talecris Biotherapeutics, Therapy, alpha 1-Antitrypsin Deficiency.

This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.