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Congenital Amegakaryocytic Thrombocytopenia

What is Congenital Amegakaryocytic Thrombocytopenia?

Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.

 

Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.
Acknowledgement of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Prevalence Information of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Synonyms for Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Cause of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Symptoms for Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Diagnosis of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Diagnostic tests of Congenital Amegakaryocytic Thrombocytopenia has not been added yet
Treatments of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Prognosis of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
Tips or Suggestions of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
References of Congenital Amegakaryocytic Thrombocytopenia has not been added yet.
CAMT Created by acirone79
Last updated 1 Mar 2016, 04:34 PM

Posted by karencollier
1 Mar 2016, 04:34 PM

We have a son who turned 5 years old in January. At the age of 9 months he presented with abnormally low platelets on routine lab work. We saw hematology for 3.5 years and no treatment was done. His platelets never dropped quite low enough for transfusion and he never had symptoms. In December of 2014, Whole Exome Sequencing found that he had CAMT. He received his stem cell transplant on 8/20/15 so we are about 6 months post transplant. His counts look great and we are hoping that he will be able to resume normal activities and be around more people soon. His immune system is still pretty weak. He had the less severe type of CAMT.

Posted by Jacktesh
5 Oct 2015, 05:23 AM

My wife and I had a daughter in March 2015. She was admitted to the hospital for jaundice. When they did the CBC on her, she came back with low platelets and was in the hospital for a few days and finally received a platelet transfusion. We did followed with a hematologist for a couple months before she was finally diagnosed. She's now 6mo and is receiving platelet transfusions every 2 weeks while she waits for a bone marrow transplant in March/April.

Posted by acirone79
8 Sep 2015, 10:51 AM

Our daughter was born prematurely at 24 weeks due to placental abruption. After about 4 weeks in the NICU, she began to present with extremely low platelet counts (17) but because always transfused, we never knew her true platelet levels. A bone marrow sampling revealed she had no megakaryocytes. She passed away after her PDA ligation, but the genetic testing revealed she did carry only one mutation for CAMT. They believe the other mutation may have been located on an intron or deleted genetic material. We have found that I carry the mutation she had. We are now in the process of IVF with PGD to have a healthy child. Would love to share stories with others who have experienced this condition.

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CAMT

Created by acirone79 | Last updated 1 Mar 2016, 04:34 PM


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