PMID- 37189480
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230519
IS  - 2075-4418 (Print)
IS  - 2075-4418 (Electronic)
IS  - 2075-4418 (Linking)
VI  - 13
IP  - 8
DP  - 2023 Apr 10
TI  - Application of Targeted Next-Generation Sequencing for the Investigation of 
      Thalassemia in a Developing Country: A Single Center Experience.
LID - 10.3390/diagnostics13081379 [doi]
LID - 1379
AB  - 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.
FAU - Zulkeflee, Razan Hayati
AU  - Zulkeflee RH
AUID- ORCID: 0000-0003-2760-0703
AD  - Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian 
      16150, Malaysia.
AD  - Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia 
      (USM), Kubang Kerian 16150, Malaysia.
FAU - Bahar, Rosnah
AU  - Bahar R
AD  - Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian 
      16150, Malaysia.
AD  - Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia 
      (USM), Kubang Kerian 16150, Malaysia.
FAU - Abdullah, Marne
AU  - Abdullah M
AD  - Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian 
      16150, Malaysia.
AD  - Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia 
      (USM), Kubang Kerian 16150, Malaysia.
FAU - Mohd Radzi, Muhammad Amiro Rasheeq
AU  - Mohd Radzi MAR
AD  - Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian 
      16150, Malaysia.
AD  - Department of Paediatrics, School of Medical Sciences, Health Campus, Universiti 
      Sains Malaysia, Kubang Kerian 16150, Malaysia.
FAU - Md Fauzi, Alina
AU  - Md Fauzi A
AD  - Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Bandar 
      Baru Nilai, Nilai 71800, Malaysia.
FAU - Hassan, Rosline
AU  - Hassan R
AUID- ORCID: 0000-0003-0493-1390
AD  - Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian 
      16150, Malaysia.
AD  - Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia 
      (USM), Kubang Kerian 16150, Malaysia.
LA  - eng
GR  - FRGS/2/2014/SKK01/USM/01/1/Fundamental Research Grant Scheme/
PT  - Journal Article
DEP - 20230410
PL  - Switzerland
TA  - Diagnostics (Basel)
JT  - Diagnostics (Basel, Switzerland)
JID - 101658402
PMC - PMC10137624
OTO - NOTNLM
OT  - developing country
OT  - targeted next-generation sequencing
OT  - thalassemia
COIS- The authors declare no conflict of interest.
EDAT- 2023/05/16 06:42
MHDA- 2023/05/16 06:43
PMCR- 2023/04/10
CRDT- 2023/05/16 01:09
PHST- 2023/02/26 00:00 [received]
PHST- 2023/03/29 00:00 [revised]
PHST- 2023/04/06 00:00 [accepted]
PHST- 2023/05/16 06:43 [medline]
PHST- 2023/05/16 06:42 [pubmed]
PHST- 2023/05/16 01:09 [entrez]
PHST- 2023/04/10 00:00 [pmc-release]
AID - diagnostics13081379 [pii]
AID - diagnostics-13-01379 [pii]
AID - 10.3390/diagnostics13081379 [doi]
PST - epublish
SO  - Diagnostics (Basel). 2023 Apr 10;13(8):1379. doi: 10.3390/diagnostics13081379.