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Home Page > Diseases by Region: Ashkenazi > Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency
by Yael Rosenberg, RN

Alpha-1 Antitrypsin (AAT) Deficiency is an autosomal recessive disorder that is caused by a mutation of the SERAPINA 1 (PI) gene on chromosome 14. The liver in individuals with this disorder does not produce enough of the protein AAT which is a protease inhibitor whose function is to protect the lungs and liver from damage. Reduction or lack of this principle protease inhibitor in the blood gives rise to deterioration of the lung tissue and increases risk of severe lung disease. In addition buildup of abnormal AAT in the liver can result in liver disease.

   •  Shortness of breath on minimal exertion
   •  Chronic productive cough
   •  Repeated respiratory infections
   •  Affected people often develop emphysema
   •  Unintentional weight loss
   •  Approximately 10% of infants develop liver disease which frequently causes jaundice

15% of adults develop cirrhosis of the liver due to scar formation which has the following symptoms:
   •  Ascites
   •  Edema of feet or legs
   •  Jaundice

There is a higher incidence for those affected by Alpha-1 Antitrypsin (AAT) Deficiency to develop a type of liver cancer called hepatocellular carcinoma

Incidence and Carriers
Most common fatal genetic disorder worldwide

Carrier Frequency:   PiS allele: 1 in 9 – 1 in 12 among Caucasians.
                                PiZ allele: 1 in 30 – 1 in 40 among Caucasians.

PiZ allele prevalence among Ashkenazi Jewish ancestry is 1 in 92

Disease Frequency: 1,500 – 3,500 individuals of European Ancestry
                                Uncommon in individuals of Asian descent

Many people with Alpha-1 Antitrypsin (AAT) Deficiency are believed to be undiagnosed especially those with the common diagnosis of COPD- Chronic Obstructive Pulmonary Disease.

   •  Augmentation Therapy: Injection of alpha -1-antitrypsin from blood of healthy donors.
   •  Gene therapy: Currently under research
   •  Organ transplantation when damage to lungs or liver is extensive.
   •  Symptomatic treatment: Medications for bronchial symptoms. Quitting smoking is vital
   •  Supportive treatment: Improving lung function with exercise, and deep breathing, and supplemental oxygen when needed.

In 2003 The American Thoracic Society and The European Respiratory Society set comprehensive guidelines for the genetic diagnosis of alpha-1-antitrypsin deficiency. The guidelines focus on who should be tested and why.

It is recommended that the following individuals undergo genetic testing for AAT deficiency:
   •  Individuals afflicted with COPD, emphysema, unexplained liver disease, necrotizing paniculitis, vasculitis, bronchiectasis.
   •  Those individuals who have family members with AAT deficiency or unexplained liver disease or COPD
   •  Those living in countries where the prevalence of AAT deficiency is high should undergo carrier screening tests.

The following test assist with the diagnosis:
   •  Alpha-a-antitrypsin levels in the blood
   •  Arterial blood gases
   •  Chest X-ray
   •  CT scan of the chest

Laboratories and Screening
The following laboratories offer genetic testing for AAT Deficiency:
   •  United States
   •  Israel
   •  Europe

Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free (866) 262-7943
Phone (949) 900-5500
Fax (949) 900-5501

ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706

Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787

Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787

Cincinnati Children's Hospital Medical Center, Division of Human Genetics
3333 Burnet Avenue,
Cincinnati, Ohio 45229-3039
Phone: (513)  636-4474
Fax: (513)  636-4373

1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
 - Targeted Mutational Analysis and Prenatal Testing only

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542

Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874

Quest Diagnostics Nichols Institute of Valencia
27027 Tourney Road
Valencia, CA 91355
Phone: (661) 799-6543
Toll Free: (800) 421-7110
Fax: (661) 799-6634
Contact: Micheleen Sidamon
Phone: (661) 799-6350
Fax: (661) 799-5283
 - Targeted Mutation Analysis and Prenatal Testing only

The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb, Haifa , 33394
Phone: (+972) 4-835-9851, (+972) 4-835-9495

Carmel Medical Center
Molecular Genetics Laboratory
Michal Street , Haifa 34362
Phone: (+972) 4-8250407

Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972) 4-6495416

GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111

Kaplan medical center, Molecular Genetics Laboratory
Rehovot , Israel
Phone: (+972) 8-9441534

Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba , Israel
Phone: (+972) 9-7471059

Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22 Rosh Haayin 48056 Israel
Phone: (+972) 3-9155330
Fax: (+972) 3-9155331

Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-3126155
Fax: (+972) 73-2126144

Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 39377659
Fax: (+972) 39377660

Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972)- 4-8542456

Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer; Ramat Gan . 52621, Israel
Phone: (+972) 3-5303060

Soroka University Medical Center
Genetics Laboratories
Beer-Sheva , Israel
Phone: (+972) 8-6400258

Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555

Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel

   •  Germany
   •  Spain

Bio.logis Center for Human Genetics
Frankfurt, Germanyy
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 695-308437
Fax: (+49) 695-308437-11

Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr Nadine Bachmann
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Targeted Mutation Analysis and Prenatal Testing only

Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Tel. (+49)  381 7022750
Fax (+49)  381 7022759

Dr. Eberhard and Partner
MVZ Dortmund (click here to go to Laboratory Web site)
Dortmund, Nordrhein-Westfalen, Germany
Phone: (+49) 231-9572 0
Fax: (+49) 231-579834

Medical Genetics Center
Bayerstraße 3-5 (durch die Mathäser-Passage)
Eingang Schlosserstraße 6
80335 München
Phone:  (+49) 89-30-90 886-0
Fax: (+49) 89-30-90 886-66

IMEGEN (Instituto de Medicina Genómica, S.L.)
Science Park. University of Valencia
C/ Catedrįtico Agustķn Escardino, 9
E46980 Paterna (Valencia)
Phone: (+34) 963 212 340
Fax: (+34) 963 212 341

Sistemas Genomicos SL
Medical Genetics Unit
Parque Tecnológico de Valencia
Ronda G. Marconi, 6
46980 Paterna (Valencia)
Tel: (902) 364 669
Fax: (902) 364 670
Contact: David Garcia, MSc

Resources and More
Alpha-1 Association
2937 SW 27 Avenue, Suite 106
Miami, FL 33133
Toll Free: (800) 521-3025
Phone: (305) 648-0088
Fax: (305) 648-0089

Alpha-1 Foundation
2937 SW 27th Avenue
Suite 302
Miami, Florida 33133
Phone: (305) 567-9888
Toll Free: (877) 228-7321
Toll Free: (877) 2-CURE-A1)
Fax: (305) 567-1317

Alpha-1 International Registry

American Liver Foundation
39 Broadway, Suite 2700
New York, New York 10006
Phone (212) 668-1000
Fax: (212) 483-8179
American Lung Association
1301 Pennsylvania Ave., NW
Suite 800
Washington, DC 20004
Toll Free: (800)  LUNGUSA
Too Free: (800) 548-8252

The Lung Association, National Office
1750 Courtwood Crescent, Suite 300
Ottawa, ON
K2C 2B5
Phone: (613) 569-6411
Toll Free: (888) 566-LUNG (5864)
Fax: (613) 569-8860

Children’s Liver Disease Foundation
36 Great Charles Street,
Birmingham, B3 3JY.
Phone (0121) 212-3839

Cleveland Clinic Respiratory Institute offers the alpha-1 antitrypsin deficiency centers:
   •  Beachwood Family Health & Surgery Center
       26900 Cedar Road
       Beachwood, OH 44122
       Phone: (216) 839.3820

   •  Brunswick Family Health Center
       3574 Center Road
       Brunswick, OH 44212
       Phone: (330) 225-8886

   •  Euclid Hospital
      18901 Lakeshore
      Euclid, OH 44119
      Phone: (216) 692-7848

   •  Hillcrest Hospital
      6770 Mayfield Road
      Mayfield Heights, OH 44124
      Phone: (440) 312-7140

Support Groups
AlphaNet, Inc.
2937 SW 27th Ave.
Suite 305
Coconut Grove, FL 33133
Phone: (800) 577-2638

The Alpha-1 Association Support Group Network

Alpha-1 antitrypsin deficiency support groups

Daily Strength

The Alpha-1 Lungs & Life Support EMail List


Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
Books: Jewish Genetic Diseases



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