دورية أكاديمية
أعرض في EDS

Characterization of New Alpha Zero (α 0 ) Thalassaemia Deletion (-- GB ) among Malays in Malaysian Population.

التفاصيل البيبلوغرافية
العنوان: Characterization of New Alpha Zero (α 0 ) Thalassaemia Deletion (-- GB ) among Malays in Malaysian Population.
المؤلفون: Yasin NM; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia., Abdul Hamid FS; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia., Hassan S; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia., Mat Yusoff Y; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia., Mohd Sahid EN; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia., Esa E; Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia.
المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Oct 23; Vol. 13 (20). Date of Electronic Publication: 2023 Oct 23.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2011]-
مستخلص: 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 -α 3.7 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 α 0 - 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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معلومات مُعتمدة: [NIH.800-4/4/1 Jld. 120 (3)] Ministry of Health Malaysia Research Grant
فهرسة مساهمة: Keywords: GB deletion; alpha zero thalassaemia; deletional characterization; unique mutation among Malays
تواريخ الأحداث: Date Created: 20231028 Latest Revision: 20231030
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10606806
DOI: 10.3390/diagnostics13203286
PMID: 37892108
قاعدة البيانات: MEDLINE
الوصف
تدمد:2075-4418
DOI:10.3390/diagnostics13203286