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Updated: Nov 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A rare gene variation cap +1 (A>C) (HBB: c. -50A>C) associated with codon 5 (-CT) (HBB: c.17_18delCT) mutation in
Hossam Murad1, Faten Moassas1, Nour A L Fakseh1
1Molecular Biology and Biotechnology Department, Human Genetics Div, Atomic Energy Commission of Syria, Damascus, Syria.
Background:
CAP+1 [A>C] (HBB:c.-50A>C) is a rare silent β-thalassemia (β-thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β-thalassemia mutations, leading to variable phenotypes.
Case Presentation:
Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.-50A>C) mutation with β0 codon 5 [-CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI).
Conclusions:
The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities.
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