PT  - JOURNAL ARTICLE
AU  - Kritsada Singha
AU  - Rossarin Karnpean
AU  - Goonnapa Fucharoen
AU  - Supan Fucharoen
TI  - Dominant β-thalassaemia with unusually high Hb A<sub>2</sub> and Hb F caused by β<sup>CD121(−G)</sup> (HBB:c.364delG) in exon 3 of β-globin gene
AID  - 10.1136/jclinpath-2019-206308
DP  - 2020 Aug 01
TA  - Journal of Clinical Pathology
PG  - 511--513
VI  - 73
IP  - 8
4099  - http://jcp.bmj.com/content/73/8/511.short
4100  - http://jcp.bmj.com/content/73/8/511.full
SO  - J Clin Pathol2020 Aug 01; 73
AB  - 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) analysis revealed relatively higher Hbs A2 (6.8%) and F (4.7%) as compared with those of β0-thalassaemia (n=278) and β+-thalassaemia (n=55) carriers in our series. Secondary structure prediction of the elongated β-globin chain showed that the α-helix at the C-terminal is disrupted dramatically by the random coil and β-sheet, which should result in a highly unstable β-globin variant, undetectable in peripheral blood and a dominant clinical phenotypic feature.