Article
Global Globin Network and adopting genomic variant database requirements for thalassemia.
Database : the journal of biological databases and curation - 4 Sept 2024
Halim-Fikri Hashim, Zulkipli Ninie Nadia, Alauddin Hafiza, Bento Celeste, Lederer Carsten W, Kountouris Petros, Kleanthous Marina, Hernaningsih Yetti, Thong Meow-Keong, Mahmood Muhammad Hamdi, Mohd Yasin Norafiza, Esa Ezalia, Elion Jacques, Coviello Domenico, Raja-Sabudin Raja-Zahratul-Azma, El-Kamah Ghada, Burn John, Mohd Yusoff Narazah, Ramesar Raj, Zilfalil Bin Alwi
Abstract excerpt
Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating global methods and solutions for effective and optimal therapy. LMICs are disproportionately impacted by thalassemia, and due to disparities in genomics awareness and diagnostic...
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