Article
Identification of a Novel Nonsense Mutation in a Patient with Transfusion-Dependent Hb H Disease.
Clinical laboratory - 1 Mar 2018
Holtkamp Nikola, Pistioli Anneta, Rasenack Thomas, Kiesewetter Holger, Heinze Klaus-Guenter
Abstract excerpt
BACKGROUND: Hb H disease is a form of α-thalassemia. The high clinical variability is influenced by the exact combination of mutations. Here we report on a 29-year-old female patient from Afghanistan who received regular blood transfusions since her childhood. METHODS: For diagnosis we employed Sanger sequencing, multiplex ligation-dependent probe amplification, hemoglobin-electrophoresis, and hematological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.