Heterogeneity in α‐thalassemia interactions in Malays, Chinese and Indians in Malaysia

Wee, Yong-Chui; Tan, Kong Wai; Chow, Tom; Yap, Sook Fan; Tan, Jin‐Ai Mary Anne

doi:10.1111/j.1447-0756.2005.00333.x

Cited by 16 publications

(20 citation statements)

References 29 publications

(29 reference statements)

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“…α CS α point mutation and --SEA deletion mutation are other common mutations in Southern Chinese and Southeast Asian populations [29,30]. To the best of our knowledge, these two mutations as well as α IC α mutation have not previously been reported in Turkey, and they have been shown for the first time in this study.…”

Section: Resultsmentioning

confidence: 57%

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

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Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct α-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -α3.7 (52.28 %), -(α)20.5 (14.74 %), --MED (10.53 %), and αPA-1α (8.77 %). Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.

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Section: Resultsmentioning

confidence: 57%

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

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“…Several studies have shown plausible evidence that −− SEA cis gene deletion as the most common amongst Malaysian Chinese, while this deletion is not as common as the −α 3.7 allele in Malays [3,9–11]. On average, throughout the population, the −− SEA deletion is characteristically four times more common in Malaysian Chinese than in Malays [3,10,11]. Moreover, Hb CS which was observed at a prevalence of 30% in this study, by contrast, has a nationwide frequency ranging between 1.1% and 3.6% (95%CI) in the ethnic Malays [11].…”

Section: Discussionmentioning

confidence: 99%

Molecular Characterization of α- and β-Thalassaemia among Malay Patients

Yatim

Rahim

Menon

et al. 2014

IJMS

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Both α- and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four α-thalassaemia deletions and mutations were demonstrated. −−SEA deletion and αCSα accounted for more than 70% of the α-thalassaemia alleles. Out of the 20 β-thalassaemia alleles studied, nine different β-thalassaemia mutations were identified of which βE accounted for more than 40%. We concluded that the highest prevalence of (α- and β-thalassaemia alleles in the Malays from Penang are −−SEA deletion and βE mutation, respectively.

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“…Few studies describing the frequencies of deletional and nondeletional α thalassaemia in Malaysia have been conducted [10], and they lack the scale and magnitude presented here; in this study, a large cohort of multi-ethnic patients was included, thereby maximising the demographic characteristics.…”

Section: Introductionmentioning

confidence: 99%

Distribution of Alpha Thalassaemia Gene Variants in Diverse Ethnic Populations in Malaysia: Data from the Institute for Medical Research

Ahmad

Saleem

Aloysious

et al. 2013

IJMS

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Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for α thalassaemia screening from 2007 to 2010 were retrieved. The aims of this retrospective analysis were to describe the distribution of various alpha thalassaemia alleles in different ethnic groups, along with their genotypic interactions, and to illustrate the haematological changes associated with each phenotype. Amongst the patients, 51.2% (n = 2567) were diagnosed with α thalassaemia. Of the 13 α thalassaemia determinants screened, eight different deletions and mutations were demonstrated: three double gene deletions, – – SEA, – – THAI, ––FIL; two single-gene deletions, α–3.7 and – α4.2; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of α–3.7 deletion was observed in Malays, Indians, Sabahans, Sarawakians and Orang Asli people. However, the – – SEA deletion was the most common cause of alpha thalassaemia in Chinese, followed by the α–3.7 deletion. As many as 27 genotypic interactions showed 1023 α thalassaemia silent carriers, 196 homozygous α+ thalassaemia traits, 973 heterozygous α0 thalassaemia carriers and 375 patients with Hb H disease. Statistical analysis showed a significant difference in the distribution of α thalassaemia determinants amongst the various ethnic groups. Hence, the heterogeneous distribution of common determinants indicated that the introduction of an ethnicity-targeted hierarchical α thalassaemia screening approach in this multi-ethnic Malaysian population would be effective.

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Heterogeneity in α‐thalassemia interactions in Malays, Chinese and Indians in Malaysia

Abstract: The data obtained gives a better understanding of the interactions of the different alpha-thalassemia determinants in the different ethnic groups, thus enabling more rapid and specific confirmation of alpha-thalassemia in affected pregnancies where antenatal diagnosis is necessary.

Cited by 16 publications

References 29 publications

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Molecular Characterization of α- and β-Thalassaemia among Malay Patients

Distribution of Alpha Thalassaemia Gene Variants in Diverse Ethnic Populations in Malaysia: Data from the Institute for Medical Research

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