Article
A Rare Case of De Novo α-Globin Cluster Duplication, ααα102 (NC_000016.10: G.79903_181947dup) in a β-Thalassemia IVS 1-1 (G>T) (HBB: C.92 + 1G>T) Carrier with Thalassemia Intermedia Phenotype.
Hemoglobin - 1 Mar 2026
Esa Ezalia, Hassan Syahzuwan, Mat Yusoff Yuslina, Mohd Yasin Norafiza, Abdul Hamid Faidatul Syazlin, Mohd Sahid Ermi Neiza, Md Nor Azian Naila, Somasundram Suguna, Aziz Nur Aisyah, Zulkefli Ezzanie Suffya, Zakaria Zubaidah, Abu Bakar Azlinda
Abstract excerpt
α-Globin triplication increases α/non-α-chain imbalance and may lead to a symptomatic β-thalassemia carrier. We describe a novel, de novo large segmental duplication, ααα102 in a patient who is a β-thalassemia IVS 1-1 (G > T) (HBB:c0.92 + 1G > T) carrier and presented with thalassemia intermedia. The duplication spans from intron II, position 203 of the N-methylpurine DNA glycosylase (MPG) gene, to the downstream...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.