A Case Report of Down Syndrome and β-Thalassemia Major Coincidence

Naser Ali Mirhosseini; Shima Mirhosseini

doi:10.18502/wjpn.v6i1.14254

Naser Ali Mirhosseini Children Growth Disorder Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Shima Mirhosseini Department of Biology, Faculty of Science, Yazd University, Yazd, Iran

DOI: https://doi.org/10.18502/wjpn.v6i1.14254

Keywords: Down syndrome; Beta-Thalassemia; Transfusion Therapy; Karyotype

Abstract

Background: Down syndrome and β-thalassemia are commonly prevalent genetic diseases worldwide. Predominantly, an extra copy of chromosome 21 or trisomy 21 predominantly causes Down syndrome (the most common genetic etiology of moderate intellectual disability). Down syndrome is associated with congenital anomalies and characteristic features. β-thalassemia major or transfusion- dependent thalassemia refers to a severe expression of the disorder that requires early transfusion therapy.

Case Report: Here, we reported a male Down syndrome patient with a 47, xy, +21 karyotype who was diagnosed with β-thalassemia major at
6 months and treated with repeated transfusions every 20 days due
to anemia.

Conclusion: The association between Down syndrome and major β-thalassemia is rare. The severity of the presentation of the child may be explained by the coincidence of these diseases