ࡱ>  hSbjbjSS k11<<xxx,t~&,,,,,\.\ \}}}}}}}$ ҃}x]yWJ\]]}<<,,M=x~:___]<,x,}_]}__6{v},IU]|}~H~|f],f8}fx} ]]_]]]]]}}_]]]~]]]]f]]]]]]]]] :  ALPHA-1 ANTITRYPSIN DEFICIENCY This leaflet is written for people with Alpha-1 antitrypsin deficiency or people who are found to be carriers of alpha 1 antitrypsin and their family members. What is alpha-1 antitrypsin? Alpha-1 antitrypsin is a chemical made in your liver that circulates in your bloodstream. Why is alpha-1 antitrypsin important? 1AT is one of the chemicals that protect the tissues of your body from being damaged by substances contained in white blood cells. White blood cells contain substances (enzymes) that help them to move through tissues, clean up wounds, and perform other valuable, healthy functions. However the activities of these enzymes must be strictly controlled or they can attack normal tissue in your body. 1AT normally provides one type of protection against these enzymes. What is alpha-1 antitrypsin deficiency? Individuals with 1AT deficiency have lower concentrations of the enzyme in their bloodstream. How common is alpha 1 antitrypsin deficiency? Around 1 in 3000 people in the UK have 1AT deficiency. Around 1 in 25 people from Northern Europe are carriers of 1AT deficiency. What are the effects of having Alpha-1 antitrypsin deficiency? The effects of the deficiency are varied: Some people seem to suffer no ill effects whatsoever. Lung problems: Some people remain healthy for years but then as adults develop breathing difficulties due to a condition called emphysema. Emphysema is caused by damage to the air sacs in the lungs and people with emphysema often feel short of breath. Liver Problems. 1AT is made in your liver, and 1AT deficiency can cause a strain on the liver which occasionally leads to noticeable health problems. An individual with 1AT deficiency can develop scar tissue in their liver (cirrhosis) in middle age which reduces liver function and your doctors may want to do some tests to check on your liver. Occasionally liver problems such as inflammation of the liver (hepatitis) are noticeable in newborn babies with 1AT deficiency. Why do some people have Alpha 1 antitrypsin deficiency? Any individual who has 1AT deficiency was born with it, although in some cases they may never know. Our ability to make 1AT is inherited through genes passed on by both parents. We have about 25,000 pairs of genes inside every cell of our body. Our genes determine how our bodies grow and develop. One of these genes is known as Protease Inhibitor (Pi). It is this gene that makes the 1AT chemical. -2 - How does alpha 1 antitrypsin run in families? We all have two copies of the Pi gene. We inherited one copy from our mother and the other from our father. When we have a child we pass one of our Pi genes, and our partner provides the other. What are the different genetic types? There are more than 70 different varieties of the Pi gene. Most of these varieties result in normal levels of 1AT in the blood, but some result in reduced levels or no 1AT. The most common varieties are called M, S and Z. Most of us have two copies of type M (This can be written PiMM) and have NORMAL levels of 1AT in our bloodstream. Type Z results in low levels of 1AT in the blood stream and someone with two copies of the Z type (PiZZ) has 1AT deficiency. Someone with one copy of type Z and a copy of type M (PiMZ) is known as a carrier of 1AT deficiency. Type S results in slightly reduced levels of 1AT, so someone with PiMS will probably have less 1AT than someone with PiMM but more than someone with PiMZ. What can people with 1AT deficiency do to look after their health? The most important way to preserve your health is to give up smoking (or never start smoking) and to avoid passive smoking. Smoking attracts white blood cells to the lungs in large numbers, and speeds up the development of lung disease. Remember that if you have 1AT deficiency your lungs do not have normal defences against the substances contained in white blood cells. Similarly dust particles and chemicals that could irritate the lung should be avoided where possible as they could trigger the substances in white blood cells. A person with 1AT deficiency is more likely to develop liver problems if they drink more than the recommended weekly intake of alcohol. For this reason people with 1AT deficiency are recommended to moderate how much alcohol they drink. If your child is found to have 1AT deficiency it is advisable to disc234 M r   $ O HJ>@ŶŪ٤ٖwnaŖŪŪŪŪhEX5OJQJ\^JhEX5\aJhEXCJOJQJ^JaJ hEX5CJOJQJ\^JaJhEXCJOJQJ^JaJ hEXaJhEXCJOJQJ^JhEX5CJOJQJ\^JhEXCJOJQJ^JaJ hEXaJhEXhEX5>*CJ aJ hEXCJ"jhEXCJUmHnHsH u$234L vqqqhch$a$ $7$8$H$a$$a$F$EƀkFa$CEƀkF L M s Oyz $h7$8$H$`ha$N$ & F7$8$Eƀ`kFH$a$ $7$8$H$a$ $7$8$H$a$8BD~uu $7$8$H$a$ $7$8$H$a$G7$8$EƀbH$ $7$8$H$a$ $h7$8$H$`ha$ $h7$8$H$^ha$ $ & F7$8$H$a$ F^  B\dzH:Bbp f!R$T$%%p'''(889X9;;;;;<~<津մhEX5OJQJ\^JhEX5OJQJ\^JaJU hEX]hEX5CJOJQJ\^JhEXCJOJQJ^JaJ hEX5aJ hEX5 hEX5\ hEX5CJOJQJ\^JaJhEX hEXaJhEX5CJOJQJ^JaJ3FX$ & Fx7$8$Eƀ`kFH$^`a$X$ & Fx7$8$Eƀ`kFH$^`a$ $7$8$H$a$ f!R$T$OFFFAA$a$ $7$8$H$a$X$ & Fx7$8$Eƀ`kFH$^`a$X$ & Fx7$8$Eƀ`kFH$^`a$T$%%r't'999X9;;;;;;;;;;<T>V>X>>2@4@8@ $7$8$H$a$ $7$8$H$a$$a$ $7$8$H$a$ourage smoking and to be aware of the effects of alcohol from an early age. The child should be protected from passive smoking. Is there any special advice for carriers? Being a carrier of 1AT deficiency does not normally have any effect on your health. However it is advisable to avoid cigarette smoke as it is thought that carriers are slightly more likely to develop lung problems like emphysema especially if they smoke or inhale passive smoke. - 3 - What about people with the S type of alpha 1 antitrypsin? There are no special guidelines for people with the S type. As a general rule they can follow advice given to people with the Z type, although they will have slightly more 1AT in their bloodstream so they are less likely to develop lung or liver problems than someone with the Z type. Will my children have alpha 1 antitrypsin deficiency if I am a carrier? If your partner is not a carrier of 1AT deficiency you will not have a child with 1AT deficiency but your children will each have a 50% chance of being a carrier.    If your partner is also a carrier of 1AT deficiency (PiMZ) there will be a: 1 in 4 (25 per cent) chance you will both pass on the Z type so your child will have 1AT deficiency 1 in 2 (50 per cent) chance one of you will pass the Z type and the other will pass the normal type so the child will be a carrier of 1AT deficiency 1 in 4 (25 per cent) chance neither of you will pass on the Z type so your child will not be a carrier of 1AT deficiency.   The chances are the same in every pregnancy. - 4 - Will my children have alpha 1 antitrypsin deficiency if I have the deficiency? If your partner is not a carrier of 1AT deficiency you will not have a child with 1AT deficiency but all your children will be carriers.         If your partner is a carrier of 1AT deficiency your children will have a 50 per cent chance of being a carrier and a 50 per cent chance of having 1AT deficiency.   The chances are the same in every pregnancy.   North East Thames Regional Genetics Service Carrier Normal Male Carrier Female Z type of Pi gene Carrier Normal Normal When a carrier has a baby with someone who is not a carrier, any pregnancy has equal chances (50:50) of being a carrier or not. The baby will not be affected as only one abnormal gene copy can be inherited. Carrier Carrier Male Carrier Female Z type of Pi gene alpha 1 antitrypsin deficiency Carrier Normal When two carriers have a baby together, there is a 1 in 4 chance the baby will have alpha 1 antitrypsin deficiency, and a 1 in 2 chance that the baby will be a carrier. Normal Alpha 1 antitrypsin deficiency Z type of Pi gene When someone with alpha 1 antitrypsin has a baby with someone who is not a carrier, any child they have will be a carrier, but will not be affected. Carrier Carrier Carrier Carrier Alpha 1 antitrypsin deficiency Alpha 1 antitrypsin deficiency Carrier Z type of Pi gene Alpha 1 antitrypsin deficiency Carrier Carrier When someone with alpha 1 antitrypsin has a baby with someone who is a carrier, any pregnancy has equal chances (50:50) of being a carrier or having alpha 1 antitrypsin deficiency. Produced by: The Clinical Genetics Unit, North East Thames Genetics Service Great Ormond Street Hospital Great Ormond Street London WC1N 3JH Tel: 020 7905 2647 Fax: 020 7813 8141 Updated October 2015  ~<R>X>>>4@6@:@<@D@F@CCCCCD\D^DbDlDnDpD EE&F*F,F6F8F:FFBFFFVFZFjFnFvFzFFGGGGPHĸ~ĸhEX hEXaJ.jhEXCJOJQJU^JmHnHsH u.jhEXCJOJQJU^JmHnHsH uhEXCJOJQJ^JhEX5CJOJQJ\^J hEX5CJOJQJ\^JaJhEXCJOJQJ^JaJhEXCJOJQJ^JaJ.8@:@>@@@B@D@H@J@L@N@P@R@T@V@X@@@AN$ & F7$8$Eƀ`kFoH$a$ $7$8$H$a$ABCCCCCCCCCcZZZZZZZZ $7$8$H$a$N$ & F7$8$Eƀ`kFoH$a$N$ & F7$8$Eƀ`kFoH$a$ CCCCCCDDD^DbDnDpDE$F&F,F:F>FDFFFXFZFlFnFxFzF $7$8$H$a$ $7$8$H$a$ $7$8$H$a$zFFFFFGGGGGGGGGGGGGGGGGPHRHTHXHZH\H $  7$8$H$a$ $7$8$H$a$PHTHVH\H^H`HHHHHHHHH I I0I2IDIFIVIXIhIjI K KKK K"KK\K^KKKKKKKKKK>M@MPMRMMMMMNNNNO OOO$a$K\K^KKKKKKKKK>M@MPMRMMMMMNNNNO OOO2O4OvOxOOOOOOO2P4PFPHPZP\PQQBSZS^S`SfShSjhEXUh=CJOJQJ^JhEXCJOJQJ^JhEXCJOJQJ^JaJ hEXCJhEXCJOJQJhEX3O0O2O4O\OtOvOxOOOOOOOP2P4PFPHPZP\PQQR`RRRRR$a$R S0S2S\S^SbSdSfShS ,1h/ =!"#$% nbCPNG  IHDR1ȪPLTEfu0ָK^ɚbKGDHgIFg>U cmPPJCmp0712OmIDAT(ϝ=O0 ^`o$*\U:?:oc?~#(BDn(ex)%t"3O hM9 ^dMIw2+~A%)*c8Јl|~x"UIq/̬+mH_J$Ψ=) }j#feJLZASEHeI&\4 :nW,yԦ)U nDM=̆!3/^=RSl.&Mm*0 j4LN<S,w!IENDB`3Dd =WB@0  # Ab2oB!U~=!S=m2D+ne2oB!U~=!S=PNG  IHDR9l犺sRGB2IDATx^}yx]ŕ{7IE18` {:d>2I !L̐|73Lz=3M IҝN KXa5Mmlɖ%=ܺ> Gwﾺ:SN[6 bW(x"s䃏_pE*AMP*!"bAb U.r.޾>Z􁠪^SA,W޲ıUf}(\Z"6q<{\>(T+UdLgPuo s*PmiȾ.}%|=l)INv/vԊ %SQzs)(5 |O-56%ہ- *V " 0[! 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