Alpha-1 Antitrypsin Deficiency is a genetic disorder that can affect the liver and/or lungs. In infants and children Alpha-1 Antitrypsin Deficiency can affect the liver and rarely causes a skin condition called panniculitis.

Alpha-1 Antitrypsin is a protein that is made in the liver and released into the bloodstream. This protein protects healthy tissue from enzymes- specifically neutrophil elastase. The enzyme's primary function is to aid healing by digesting damaged cells and bacteria. When someone does not produce enough Alpha-1 Antitrypsin, then the enzymes can consume healthy tissue. When an infant or child is affected by Alpha-1 Antitrypsin Deficiency, the proteins that are being produced accumulate in the liver, causing damage and possible cirrhosis.

Genetics of Alpha-1

A gene is a region of chromosome that is made of a molecule called DNA (deoxyribonucleic acid). There are thought to be between 25,000 and 30,000 genes in each cell of your child. These genes are found on 46 chromosomes. Twenty-three of these chromosomes came from the mother and 23 came from the father. So your child has two copies of each of the 23 chromosomes.

In the case of Alpha-1, there are four variations (alleles) of the gene that produces alpha-1-antitrypsin. The normal allele is called M and produces all of this protein that the body needs. The second allele is called S. This allele produces a normal shaped protein but less of it than the M allele. The third allele is called Z and it forms a protein that does not have a normal shape. Finally, there is a fourth allele called the N or null allele. This allele results in no production of the Alpha-1 protein.

An example of how these alleles affect a child is as follows. A father is found to be MZ and a mother is found to be SZ. What does this mean for the type of genes that can be found in their children? In each sperm of the father will be either the M or Z allele. In each egg of the Mom will be either the S or the Z allele. It is totally random which sperm and which egg will come together to produce a child. But if the potential children are organized in random combinations, there are four possible arrangements. A child may be MS, MZ, SZ or ZZ. There is a 25% chance for any of these combinations to show up in all future children. So it is possible for a family of three to have all three children to be MS. It is also possible in a different family to have all children who are ZZ. A third family may have each child with a different gene sequence.

Note: If you have questions you would like us to work on, please submit them to us at questions@alpha1kids.org.