A rare gene variation cap +1 (A&gt;C) (HBB: c. −50A&gt;C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

Murad, Hossam; Moassas, Faten; Fakseh, Nour A L

doi:10.1002/mgg3.1602

Cited by 1 publication

(1 citation statement)

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“…CAP + 1 (A>C) is one of the rare, silent β-thalassemia formerly found in Asian Indians. Patients with these compound heterozygotes or CAP + 1 mutations normally exhibit borderline hemoglobin (Hb) levels, mean corpuscular volumes (MCV), and Hb A2 levels [ 21 ]. In this case, the Hb Constant Spring was missed by HPLC, while CE was not available at that time.…”

Section: Resultsmentioning

confidence: 99%

Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience

et al. 2023

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Thalassemia is identified as a prevalent disease in Malaysia, known to be one of the developing countries. Fourteen patients with confirmed cases of thalassemia were recruited from the Hematology Laboratory. The molecular genotypes of these patients were tested using the multiplex-ARMS and GAP-PCR methods. The samples were repeatedly investigated using the Devyser Thalassemia kit (Devyser, Sweden), a targeted NGS panel targeting the coding regions of hemoglobin genes, namely the HBA1, HBA2, and HBB genes, which were used in this study. There were many different genetic variants found in 14 unrelated cases. Out of all fourteen cases, NGS was able to determine an additional -50 G>A (HBB:c.-100G>A) that were not identified by the multiplex-ARMS method, including HBA2 mutations, namely CD 79 (HBA2:c.239C>G). Other than that, CD 142 (HBA2:c.427T>C) and another non-deletional alpha thalassemia and alpha triplication were also not picked up by the GAP-PCR methods. We illustrated a broad, targeted NGS-based test that proposes benefits rather than using traditional screening or basic molecular methods. The results of this study should be heeded, as this is the first report on the practicality of targeted NGS concerning the biological and phenotypic features of thalassemia, especially in a developing population. Discovering rare pathogenic thalassemia variants and additional secondary modifiers may facilitate precise diagnosis and better disease prevention.

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Section: Resultsmentioning

confidence: 99%