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Home Page > Diseases by Region: Ashkenazi > Congenital Amegakaryocytic Thrombocytopenia (CMAT)

Congenital Amegakaryocytic Thrombocytopenia (CAMT)
by Yael Rosenberg, RN

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is an autosomal recessive genetic disorder that is the result of the mutation of the MPL gene on chromosome 1. The onset of this genetic condition is early infancy and is characterized by thrombocytopenia (Low amount of platelets) and absence of megakaryocytes which are the large cells in the bone marrow that produce platelets. In the severe form individual afflicted with this disorder develop life threatening bleeding disorders.

CAMT has three known types:
Type I: Presents with severe, continuous thrombocytopenia and early onset of pancytopenia which is low red and white blood cell count.

Type II: Presents with temporary elevation of platelets in early infancy up to normal values. Onset of bone marrow failure at 3 to 6 years of age or later.

Type III: There is no defect in the MPL gene but there is ineffective megakaryopoesis (platelet production)

30% of patients with CAMT die of bleeding complications. Individual with CAMT may be at a higher risk for developing myelogenous leukemia.

   • Easy Bruising
   • Bleeding (can be life threatening) can be skin, gastrointestinal, pulmonary, intracranial
   • Petechiae (small round spot of bleeding in skin or mucous membranes)
   • Impaired blood clotting
   • Diminished platelet count

Incidence and Carriers
Carrier Frequency: 1 in 75 in Jews of Ashkenazi descent
Disease Frequency: 1 in 22,500 in Jews of Ashkenazi descent
The exact prevalence in the general population is unknown and is probably underestimated due to difficult and inconsistent diagnosis of the disease.

   • Bone marrow transplantation
   • Platelet transfusions ( low platelet count or preventative)
   • Fibrinolytic inhibitors to manage bleeding symptoms
   • Red blood cell transfusions when and if needed
   • Hematopoietic stem cell transplantation

   •  Bone marrow examination
   • Complete blood count
   • Genetic Testing for the MPL gene mutation

Laboratories and Screeningg
The following laboratories offer genetic testing for Congenital Amegakaryocytic Thrombocytopenias:

   •  United States
   •  Israel

BloodCenter of Wisconsin
Platelet and Neutrophil Immunology Laboratory
BloodCenter’s Diagnostic Labs
638 N. 18th Street
Milwaukee, WI 53233
Phone: (414) 937-6250
Contact: Brian Curtis
Phone: (414) 937-6087
Fax: (414) 937-6202

207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892

Prevention Genetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661

Schneider Medical Center
Pediatric Molecular Genetics Laboratory
Petach Tikva Israel 49100
Phone: (+972) 3-93 76738
Phone:  (+972) 3- 9253178
Laboratory Director: Prof. Hannah Tamary

Resources and More
Seattle Cancer Care Alliance
825 Eastlake Ave. E, P.O. Box 19023
Seattle, WA 98109-1023
Phone: (800) 804-8824

Support Groups
Platelet Disorder Support Association
133 Rollins Avenue, #5
Rockville, MD 20852
Toll-free: 87-PLATELET (877) 528-3538
Telephone: (301) 770-6636
Fax: (301) 770-6638

Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766

MUMS National Parent to Parent Network
150 Custer Court
Green Bay, WI 54301
Toll Free: (877) 336-5333
Phone: (920) 336-5333
Fax: (920) 339-0995


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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