Down Syndrome with Transient Myeloproliferative Disorder and Beta-Thalassemia Major

Abstract

Down syndrome is the most common chromosomal abnormality and is frequently associated with transient myeloproliferative disorder (TMD) and leukaemias. The coinheritance of this syndrome with beta-thalassemia major is uncommon. Only two cases of coinheritance of Down syndrome with beta-thalassemia major have been published in literature. We report an infant suffering from Down syndrome who presented with severe anemia which was later attributed to beta-thalassemia major and TMD. The infant improved after blood transfusion and other supportive management. The blasts disappeared from marrow during hospital stay. In areas of high prevalence of beta-thalassemia heterozygotes, the presence of coinheritance of the mentioned condition with another congenital disorder may be common.

Prenatal diagnosis of maternal serum from mothers carrying β‐thalassemic fetus

“…It is not surprising to note that these are also suggested as biomarkers in the maternal serum of DS pregnancies. [17][18][19] Although the co-occurrence of b-thalassemia and Down syndrome is rare, 29 the identification of common markers still is interesting. This, however, could be a limitation of our study and more investigations are required to identify bthalassemia specific markers.…”