Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia

Vijian, Divashini; Rahman, Wan Suriana Wan Ab; Kannan, Thirumulu Ponnuraj; Zulkafli, Zefarina; Bahar, Rosnah; Yasin, Norafiza Mohd; Hassan, Syahzuwan; Esa, Ezalia

doi:10.3390/diagnostics13050894

Cited by 4 publications

(6 citation statements)

References 36 publications

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“…Means for MCV and MCH were 65.4 fL and 20.6 pg, respectively. These results were consistent with the other two alpha gene deletions, namely the −− SEA , −− THAI , and −− FIL deletion [6,10,17]. The two parameters of MCV and MCH may give a significant predictive clue that helps distinguish the type of deletional alpha thalassaemia.…”

Section: Discussionsupporting

confidence: 82%

“…Considering Malaysia as a wide representative of multiple ethnic groups in the Peninsular and West Malaysia, the −− SEA deletion was found to be diverse across ethnicity. The relative chromosome frequency of the −− SEA deletion was 0.70% in the Chinese population, followed by Malays (0.16%), and Sabah and Indian population with 0.06% and 0.043%, respectively [6]. A study from R. Ahmad et al reported higher allele frequency of the −− SEA deletion among the Chinese population which was 0.86%, followed by Malays with 0.46% [10].…”

Section: Discussionmentioning

confidence: 95%

“…The discovery of this deletion in routine testing may affect the incidence of the Hb-H disease among Malays. The Chinese population had a higher incidence of the Hb H disease as they had the highest incidence of the alpha zero −− SEA deletion [6,9].…”

Section: Discussionmentioning

confidence: 99%

“…Alpha (α)-thalassaemia is the most common inherited disorder resulting from a reduced rate of synthesis of the α-globin chain. The prevalence of alpha thalassaemia trait in local studies including the Southeast Asia regions is higher (4.08% to 48.9%) [1][2][3][4][5][6] compared to beta (β)-thalassaemia carriers, which are reported by many researchers and range from 0.93% to 12.8% [1,2,5,7]. In one meta-analysis study involving 83,864 thousand subjects in the Southeast Asian region, the prevalence of α-thalassaemia in Malaysia is 17.4%, which is lower compared to the overall prevalence in the Southeast Asian region, which is 22.6% [8].…”

Section: Introductionmentioning

confidence: 99%

“…Normal individuals have four alpha genes (αα/αα) per genome, two identical genes (αα) on each chromosome 16p. Structurally, the more telomeric α−globin gene is designated with the α2 gene (HBA2) and the more centromeric gene is designated with the α1 gene (HBA1) [6]. The α 0 -thalassaemia, involves complete loss of both functional α globin Diagnostics 2023, 13, 3286 2 of 11 genes in cis on the same chromosome mainly caused by deletions (−−/αα).…”

Section: Introductionmentioning

confidence: 99%

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Characterization of New Alpha Zero (α0) Thalassaemia Deletion (−−GB) among Malays in Malaysian Population

Yasin,

Abdul Hamid,

Hassan

et al. 2023

Diagnostics

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Malaysia is a multicultural and multiethnic country comprising numerous ethnic groups. From the total population of 32.7 million, Malays form the bulk of the Bumiputera in Malaysia comprise about 69.9%, followed by Chinese 22.8%, Indian 6.6%, and others 0.7%. The heterogeneous population and increasing numbers of non-citizens in this country affects the heterogeneity of genetic diseases, diversity, and heterogeneity of thalassaemia mutations. Alpha (α)-thalassaemia is an inherited haemoglobin disorder characterized by hypochromic microcytic anaemia caused by a quantitative reduction in the α-globin chain. A majority of the α-thalassaemia are caused by deletions in the α-globin gene cluster. Among Malays, the most common deletional alpha thalassaemia is −α3.7 deletion followed by −−SEA deletion. We described the molecular characterization of a new −−GB deletion in our population, involving both alpha genes in cis. Interestingly, we found that this mutation is unique among Malay ethnicities. It is important to diagnose this deletion because of the 25% risk of Hb Bart’s with hydrops fetalis in the offspring when in combination with another α0- thalassaemia allele. MLPA is a suitable method to detect unknown and uncommon deletions and to characterize those cases which remain unresolved after a standard diagnostic approach.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Characterization of New Alpha Zero (α0) Thalassaemia Deletion (−−GB) among Malays in Malaysian Population

Yasin,

Abdul Hamid,

Hassan

et al. 2023

Diagnostics

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Multi-criteria decision making to validate performance of RBC-based formulae to screen $$\beta$$-thalassemia trait in heterogeneous haemoglobinopathies

Jain,

Sharma,

Saleh

et al. 2024

BMC Med Inform Decis Mak

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Background India has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are born yearly. Scaling up e-health initiatives in rural areas using a cost-effective digital tool to provide healthcare access for all sections of people remains a challenge for government or semi-governmental institutions and agencies. Methods We compared the performance of a recently developed formula SCS$$_{BTT}$$ BTT and its web application SUSOKA with 42 discrimination formulae presently available in the literature. 6,388 samples were collected from the Postgraduate Institute of Medical Education and Research, Chandigarh, in North-Western India. Performances of the formulae were evaluated by eight different measures: sensitivity, specificity, Youden’s Index, AUC-ROC, accuracy, positive predictive value, negative predictive value, and false omission rate. Three multi-criteria decision-making (MCDM) methods, TOPSIS, COPRAS, and SECA, were implemented to rank formulae by ensuring a trade-off among the eight measures. Results MCDM methods revealed that the Shine & Lal and SCS$$_{BTT}$$ BTT were the best-performing formulae. Further, a modification of the SCS$$_{BTT}$$ BTT formula was proposed, and validation was conducted with a data set containing 939 samples collected from Nil Ratan Sircar (NRS) Medical College and Hospital, Kolkata, in Eastern India. Our two-step approach emphasized the necessity of a molecular diagnosis for a lower number of the population. SCS$$_{BTT}$$ BTT along with the condition MCV$$\le$$ ≤ 80 fl was recommended for a higher heterogeneous population set. It was found that SCS$$_{BTT}$$ BTT can classify all BTT samples with 100% sensitivity when MCV$$\le$$ ≤ 80 fl. Conclusions We addressed the issue of how to integrate the higher-ranked formulae in mass screening to ensure higher performance through the MCDM approach. In real-life practice, it is sufficient for a screening algorithm to flag a particular sample as requiring or not requiring further specific confirmatory testing. Implementing discriminate functions in routine screening programs allows early identification; consequently, the cost will decrease, and the turnaround time in everyday workflows will also increase. Our proposed two-step procedure expedites such a process. It is concluded that for mass screening of BTT in a heterogeneous set of data, SCS$$_{BTT}$$ BTT and its web application SUSOKA can provide 100% sensitivity when MCV$$\le$$ ≤ 80 fl.

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Alpha Thalassemia in Istanbul: Distribution of Deletions in Alpha-globin Gene Cluster

Öztürk

2024

Genel Tıp Dergisi

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Background/Aims: Alpha thalassemia is an autosomal recessive congenital disease resulting from a globin protein disorder encoded by genes in the alpha thalassemia gene cluster. It presents a wide range of clinical conditions, from mild anemia to hydrops fetalis. Alpha thalassemia trait is common in Middle Eastern and Mediterranean countries. It is included in the premarital screening program in Turkey. TThe aim of this study was to determine the spectrum of alpha thalassemia deletions observed in Istanbul. Methods: This cohort included 169 patients who were clinically suspected to have alpha thalassemia disease or carrier, and whose mutation was detected by the MLPA method. Results: The identified variants were listed according to their frequencies and compared to previous studies conducted in different regions of Türkiye. A total of 338 alleles 61.8 % (209/338) mutations were detected. The most common variant was −α3.7 and -αMED ranked second. Conclusions: This study reports thalassemia mutations in Istanbul, it revealed a different spectrum for some variants compared to previous studies in the region.

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Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia

Cited by 4 publications

References 36 publications

Characterization of New Alpha Zero (α0) Thalassaemia Deletion (−−GB) among Malays in Malaysian Population

Characterization of New Alpha Zero (α0) Thalassaemia Deletion (−−GB) among Malays in Malaysian Population

Multi-criteria decision making to validate performance of RBC-based formulae to screen $$\beta$$-thalassemia trait in heterogeneous haemoglobinopathies

Alpha Thalassemia in Istanbul: Distribution of Deletions in Alpha-globin Gene Cluster

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