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  • Title: Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by -SEA and large novel α-globin gene cluster deletions.
    Author: Wang Y, Xiong Y, Liu C, Lu J, Wang J, Qin D, Liu L, Wu J, Zhao X, Fang L, Du L, Yin A.
    Journal: J Int Med Res; 2021 Feb; 49(2):300060521993642. PubMed ID: 33596700.
    Abstract:
    BACKGROUND: We describe 2 unusual haemoglobin (Hb) Bart's hydrops cases that could not be explained by traditional factors.Case presentation: Two families with a diagnosis or history of foetal hydrops were enrolled. A suspension-array system was used to detect the 23 most frequent mutations in southern China. Multiplex ligation-dependent probe amplification (MLPA) was used to screen for possible deletions. Precise characterisation of the breakpoints of the novel variants and uniparental disomy analysis were performed using a single nucleotide polymorphism (SNP) array. Quantitative fluorescence PCR was used to eliminate maternal cell contamination and nonpaternity. In case 1, the suspension-array system indicated a maternal heterozygous (-SEA/) deletion, and the paternal sample was negative. The foetal hydrops was caused by the maternal (-SEA/) deletion and a de novo α-globin gene deletion (-193). In case 2, the paternal sample had a heterozygous (-SEA/) deletion, and MLPA and SNP array analysis revealed a large maternal deletion (-227) that encompassed the α-globin gene, which explained the history of Hb Bart's foetal hydrops. CONCLUSIONS: Our cases describe 2 new α0-thalassaemia deletions and illustrate the importance of using a combination of methods to detect rare types of α-thalassaemia.
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