I want to ensure that everyone that is diagnosed with Alpha 1 Antitryspin Deficiency to receive the treatment they deserve. 

It is wrong to say that this will not affect those with certain phenotypes and when there is evidence to the contrary it is time to change the way the system works.

Both genes are codominant. Meaning even with one "faulty" gene, you DO have it. Science has caught up but yet Medical treatment and medical providers have not and It's a shame.

I have been diagnosed with Alpha 1 Antitryspin Deficiency (MZ phenotype), I was told that it would not affect me and I only needed to take this into consideration when and if the time comes where I want children, but my dad has the exact same phenotype and now has end stage liver failure. There are more people afflicted and dying of end stage liver disease and COPD that need improvement in the way people are treated. 

I am pushing for the risks of Alpha 1 to be made made clear to to all people with Alpha 1  regardless of phenotype and for more to be done to diagnose and treat people with Alpha 1 who are let down by under diagnosis and lack of effective treatment for Alpha 1.

If things remain the same more people risk being diagnosed too late or not at all.

If we can get effective diagnosis and treatment we can save people from the being afflicted by / dying of COPD and end stage liver failure. 

The need for urgent progress cannot be understated, please help those with Alpha 1 and avoid more heartbroken families.

 Please read sources:

Department of Respiratory Research, Royal College of Surgeons in Ireland (Science Direct) (2010)

Alpha 1 Antitryspin Deficiency 

European Respiratory Journal (2020)

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes

Servicio de Neumología del Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain
b
Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Área de Genética. La Laguna, Tenerife, Spain
c
Servicio de Pediatría del Hospital General de La Palma, La Palma, Canary Islands, Spain (2023)

Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis