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• W1967024885 abstract "Objectives To study the varied clinical and haematological profile of β-thalassaemia homozygotes, compound heterozygotes and heterozygotes with the Poly A (T→C) mutation and its implication in prenatal diagnosis. Materials and methods Forty individuals were included in the study. Peripheral smear examination, complete blood count and haemoglobin analysis were carried out. β-thalassaemia mutation analysis was carried out by reverse-dot-blot hybridization, amplification refractory mutation system and DNA sequencing of the β-globin gene. Results Five of the six β-thalassaemia homozygotes with the Poly A (T→C) mutation and five individuals who were compound heterozygous for the Poly A (T→C) mutation along with another common Indian β-thalassaemia mutation showed a severe β-thalassaemia major phenotype, while one individual presented as a thalassaemia intermedia. Majority of the 28 heterozygous individuals with this mutation showed borderline HbA2 (mean HbA2 = 3.7 ± 0.4%) levels as compared to individuals with common β-thalassaemia mutations (mean HbA2 = 5.2 ± 1.4%). The Mean Corpuscular Volume (MCV) levels in individuals heterozygous for the Poly A (T→C) mutation (mean MCV 70.0 ± 5.2 fl) were significantly higher than in individuals with other common β-thalassaemia mutations (mean MCV 60.7 ± 7.7 fl) (P < 0.001). Conclusion It is important to identify these often silent carriers of β-thalassaemia for prenatal diagnosis as homozygotes have a severe disease." @default.
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• W1967024885 date "2012-06-26" @default.
• W1967024885 modified "2023-09-25" @default.
• W1967024885 title "Variable haematological and clinical presentation of β-thalassaemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population" @default.
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• W1967024885 doi "https://doi.org/10.1111/j.1600-0609.2012.01810.x" @default.
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