Dominant β-thalassaemia with unusually high Hb A2 and Hb F caused by βCD121(−G) (HBB:c.364delG) in exon 3 of β-globin gene

We describe a dominant β-thalassaemia caused by a deletion of G at nucleotide position 364 in exon 3 of the β-globin gene. The heterozygosity of this mutation was found in a 36-year-old Thai patient who had moderate hypochromic microcytic anaemia with haemolytic blood picture. Haemoglobin (Hb) analy...

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Veröffentlicht in:Journal of clinical pathology 2020-08, Vol.73 (8), p.511-513
Hauptverfasser: Singha, Kritsada, Karnpean, Rossarin, Fucharoen, Goonnapa, Fucharoen, Supan
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Sprache:eng
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