Transient Abnormal Myelopoiesis and Neonatal Alloimmune Thrombocytopenia
Abhishek Paul, Ravi Shankar Swamy
Abstract
Transient abnormal myelopoiesis (TAM) is a disorder of fetal hematopoiesis. It is limited to Down syndrome. Trisomy 21 is linked to the disease pathogenesis, and it is evident from the fact that even phenotypically normal children with trisomy 21 mosaicism are at an increased risk of TAM and subsequent leukemia.
In severe TAM, there is massive hepatic fibrosis due to infiltration by megakaryocytes.
We ascertain the diagnosis of TAM and describe its management in a term neonate who presented with purpuric rash on the body and blood in the stools in the second week of life.
Hematologic malignancy should be evaluated in neonates with bleeding episodes, high leukocyte count, and thrombocytopenia. Neonatal alloimmune thrombocytopenia has to be ruled out if the mother’s platelet count is normal. In our case, the neonate was also confirmed to have Down syndrome with GATA1 mutation, suggestive of TAM.
Please fill the form to download the PDF of this article:
(* Mandatory fields)