Which is homozygous ZZ or SS?

Which is homozygous ZZ or SS?

Homozygous SS genotype causes less severe disease than the ZZ genotype. Homozygous individuals have plasma AAT concentration approximately 60% of normal. Some individuals may have a combination of S and Z variants (SZ genotype).

What does Alpha-1 antitrypsin phenotype is PI * MM mean?

PI*MM. This genotype is associated with a normal serum concentration of AAT and no increased risk of liver or lung disease.

What is Alpha-1 MZ?

People with the MZ genotype do not have severe AATD but are genetic carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.

What does it mean if your alpha-1 antitrypsin is high?

In people with Alpha-1 (Alphas), large amounts of abnormal alpha-1 antitrypsin protein (AAT) are made in the liver; nearly 85 percent of this protein gets stuck in the liver. If the liver cannot break down the abnormal protein, the liver gradually gets damaged and scarred.

Do both parents have to have Alpha-1 antitrypsin deficiency?

Both parents must have at least one copy of the abnormal alpha-1 antitrypsin deficiency gene in order for their child to inherit the disease.

What is normal AAT?

The normal plasma concentration of AAT ranges from 80 mg/dL to 220 mg/dL (20 to 48 micromol/L using nephelometry or 150 mg/dL to 350 mg/dL by radial immunodiffusion).

What exposure should people affected with alpha 1 antitrypsin deficiency avoid?

Patients with alpha-1 antitrypsin deficiency should be advised to quit smoking, avoid exposure to occupational dust, and have yearly influenza and pneumococcal vaccinations. This will prevent the progression of lung disease.

Is Alpha-1 a rare disease?

Alpha-1 is a rare genetic (inherited) disorder in which people have low levels of AAT in their bloodstream.

How many people have alpha 1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent.

How is alpha 1-antitrypsin deficiency diagnosed?

Alpha-1 antitrypsin deficiency (AATD) is diagnosed through testing of a blood sample, when a person is suspected of having AATD. For example, AATD may be suspected when a physical examination reveals a barrel-shaped chest, or, when listening to the chest with a stethoscope, wheezing, crackles or decreased breath sounds are heard.

What is the genotype of alpha 1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (AATD) is inherited in families in an autosomal codominant pattern. Codominant inheritance means that two different variants of the gene (alleles) may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the alpha-1 gene.