Pankaj Sharma, Prateek Bhatia, Minu Singh, Manu Jamwal, Swetha Pallavelangini, Reena Das, Pankaj Malhotra, Savita Verma Attri, Sarah Ducamp, Mark D Fleming, Amita Trehan
Inherited iron metabolism defects are possibly missed or underdiagnosed in iron-deficient endemic settings due to a lack of awareness or a methodical screening approach. Hence, we planned a systematic evaluation of anemia cases (2019-2021) based on clinical phenotype, normal screening tests (HPLC, alpha gene sequencing, ESR, CRP, tTG), and abnormal iron profile by targeted NGS (26 gene-panel) supplemented with whole exome, MLPA/mtDNA sequencing and CMA. Novel variants in ALAS2, STEAP3, and HSPA9 genes were functionally validated...
February 13, 2024: Journal of Molecular Diagnostics: JMD