Article
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.
Cold Spring Harbor molecular case studies - 1 Nov 2017
Steinberg-Shemer Orna, Ulirsch Jacob C, Noy-Lotan Sharon, Krasnov Tanya, Attias Dina, Dgany Orly, Laor Ruth, Sankaran Vijay G, Tamary Hannah
Abstract excerpt
Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a 20-yr-old man with a lifelong moderate-to-severe anemia with accompanying splenomegaly who lacked a definitive diagnosis. After a thorough clinical workup and targeted...
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