Comparison Between Three Molecular Diagnostics for the Identification of Heterozygous Hemoglobin E

Arif, Ahmad Al; An-Nizamiya, Atina Darajaat; Putri, Chintya; Nashrurrokhman, Muh; Husna, Nailil; Mulyati, .; Hadisusanto, Suwarno; Handayani, Niken Satuti Nur

doi:10.3923/pjbs.2020.17.26

Cited by 1 publication

(3 citation statements)

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“…The examples of this rapid detection were TaqMan genotyping to detect four β-thalassemia mutations and Tm-shift real-time polymerase chain reaction (Tm-shift qPCR) and high-resolution melting analysis (HRMA) that detect mutation on HbE trait. (13,22) Our finding on high frequency of IVS-1-5 (G > C) mutation contributed on the importance of implementing a rapid molecular test for this mutation especially to be applied in future screening program in Yogyakarta and its surrounding area.…”

Section: Discussionmentioning

confidence: 82%

“…DNA fragment of about 704-bp covering exon1, intron1 and exon2 of β-globin gene was amplified using standard PCR. The reaction employing primer 1 and primer 5 described in our previous study (13) was performed in the same condition. Then, DNA fragments were sequenced using Sanger methods by DNA Sequencing Services (1 st BASE, Selangor, Malaysia).…”

Section: Molecular Detection For β-Globin Gene Mutationmentioning

confidence: 99%

“…The Indonesian Biomedical Journal, Vol 13,. No.1, March 2021, p.1-105 Print ISSN: 2085-3297, Online ISSN: 2355-9179…”

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confidence: 99%

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Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia

et al. 2021

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BACKGROUND: β-thalassemia is an inherited blood disorder that relatively common in Southeast Asian countries. In Indonesia, it is estimated that 200,000 infants with thalassemia carrier born each year. Mutation causing β-thalassemia is highly varied and relatively specific in a population. This study aimed to identify the mutations responsible for β-thalassemia from Thalassemia Carrier Screening conducted in Yogyakarta Special Region. This information is beneficial for developing a strategic prevention program to control thalassemia in the region.METHODS: Twenty-eight blood samples of haematologically suspected β-thalassemia from participant of thalassemia screening program in Yogyakarta Special Region were investigated for β-globin gene mutation by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), amplification refractory mutation system (ARMS) and DNA sequencing.RESULTS: Our samples showed average HbA2 value of 5±0.81% and HbF value of 2±2.29%. It showed eight abnormal erythrocyte morphologies dominated by hypochromia (96.4%), cigar cell (85.7%), and microcytosis (78.6%). Our molecular investigation identified three splice-site mutations namely InterVening Sequence (IVS)-1-5 (G>C) (71.4%), IVS-1-2 (T>C) (7.1%), and IVS-1-1 (G>T) (3.6%), two frameshift mutations that are CD35 (-C) (10.7%) and CD8/9 (+G) (3.6%), and a missense mutation of CD6 (GAG>GTG) (3.6%).CONCLUSION: Our study concluded on a high prevalence of IVS-1-5 (G>C) mutation in Yogyakarta Special Region. This mutation information is significant for developing a strategic prevention program to control thalassemia in the region, for example for developing a rapid molecular test for future screening program.KEYWORDS: β-Globin gene, thalassemia, screening, carrier, mutation, Yogyakarta

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Section: Discussionmentioning

confidence: 82%

Section: Molecular Detection For β-Globin Gene Mutationmentioning

confidence: 99%