Alpha-1 antitrypsin deficiency
Imagine – a rare disease that’s rarely diagnosed – because it mimics so many other diseases - The Balancing Act
I'm one of those old-fashioned people that likes to read the newspaper in the morning before I go to work. Yes, an actual newspaper! You know, the paper that some people still get on their driveway every morning. (And then I have to shuffle out to get it in my big fuzzy bathrobe and hope that none of the neighbors see me....... )
This week I read an article about Alpha-1 Awareness month. I've never heard of it before, so I thought I would scan the article. I'm always interested in learning something new.....trying to keep the old brain cells nice and sharp you know!
The Alpha-1 Foundation's website says: "Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited)…
This week I read an article about Alpha-1 Awareness month. I've never heard of it before, so I thought I would scan the article. I'm always interested in learning something new.....trying to keep the old brain cells nice and sharp you know! .
In 2004 we began a national screening programme funded by the Department of Health and Children to reduce the under diagnosis and misdiagnosis of Alpha-1.
Providing information and facts about Alpha-1 Antitrypsin Deficiency for no cure has been found yet.
The AAA was established following recognition of the absence of a central body of information and contacts for those affected by and working with Alpha-1 Antitrypsin Deficiency (Alpha-1).
Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians.
Alpha-1 Antitrypsin Deficiency Canada Inc. (Alpha-1 Canada) is a national not-for-profit organization committed to providing information and support to people affected by Alpha-1 Antitrypsin Deficiency; informing the medical community about Alpha-1 Antitrypsin Deficiency; and to generate broad awareness about this genetic liver, lung and skin disease.
The Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide.
Our mission is to create a collaborative global network of Alpha-1 organisations and patients to increase awareness, detection, and access to care for Alphas around the world.
We are a friendly group, and between us we have a wealth of knowledge and experience to share. There is always someone to help with any worries or queries you might have.
Raising awareness one breath at a time.
Alpha-1 Antitrypsin Deficiency (Alpha-1) causes severe lung and/or liver disease and it is a leading reason for lung transplantation in adults and liver transplantation in young children. AlphaNet, Inc. is focused on providing health management services to individuals affected by Alpha-1...
This page is to journal my journey with Alpha-1. The joys, pains, fears....everything I feel, think and experience...
PROLASTIN-C is a concentrated form of alpha1-antitrypsin (AAT) that is purified from human plasma—the fluid part of your blood.2 When given as prescribed, PROLASTIN-C raises the levels of AAT in your blood and lungs. Because PROLASTIN® "augments" or replaces missing AAT, it is referred to as "augmentation therapy" or "replacement therapy."
The Alpha-1 Project (TAP) is a wholly-owned for profit subsidiary of the Alpha-1 Foundation singularly focused on providing critical funding and advice to speed the commercialization of therapies for the elimination of Chronic Obstructive Pulmonary Disease (COPD) and liver disease caused by Alpha-1 Antitrypsin Deficiency (Alpha-1).
The primary AAT deficiency risk factor is inheritance of the abnormal gene from one or both parents. Not every individual with AAT deficiency develops emphysema.
Alpha-1 antitrypsin deficiency occurs by mutations in the gene SERPINA1. This gene is responsible for providing the instructions for making the protein alpha-1 antitrypsin (found in the liver), which protects the body from a powerful enzyme called neutrophil elastase. This enzyme is released from white blood cells to fight infection but can also attack normal tissues (in this case, the lungs) if it is not tightly controlled by alpha-1 antitrypsin. The mutations of the SERPINA1 gene cause a shortage of alpha-1 antitrypsin or an abnormal form of the protein that can’t control neutrophil elastase. With the neutrophil elastase out of control, it begins to destroy alveoli and cause lung disease.
Between 1 in every 3,000 to 5,000 people in the UK have A1AT deficiency. Around 1 in 30 people carry an A1AT faulty gene. This makes A1AT deficiency one of the most common inherited conditions in the UK.
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