Clinical phenotype, haematological data and final globin genotype of 17 patients with deletions detected by multiplex ligation-dependent probe amplification
| Clinical phenotype | β-genotype | α-genotype | Hb (g/l) | MCV (fl) | MCH (pg) | HbA2 (%) | HbF (%) |
| δβ-thalassaemia trait (n = 4) | βA/βChinese (Aγδβ)0 | αα/−−SEA | 146 | 70.6 | 23.9 | 2.5 | 14.9 |
| βA/βChinese (Aγδβ)0 | αα/−−SEA | 127 | 69.5 | 23.1 | 2.8 | 10.0 | |
| βA/βChinese (Aγδβ)0 | αα/−−SEA | 109 | 68.2 | 21.6 | 2.7 | 10.4 | |
| βA/βChinese (Aγδβ)0 | αα/αα | 85* | 59.6* | 17.5 | 2.6* | 9.4* | |
| HPFH (n = 1) | βA/βThai (Aγδβ)0 | αα/αα | 137 | 84.3 | 28.0 | 2.0 | 28.3 |
| Raised HbA2 and HbF (n = 5) | βA/βSoutheast Asian (Vietnamese) | αα/αα | 131 | 80.6 | 25.8 | 4.5 | 21.3 |
| βA/βSoutheast Asian (Vietnamese) | αα/αα | 126 | 78.9 | 23.3 | 5.3 | 11.6 | |
| βA/βSoutheast Asian (Vietnamese) | αα/αα | 125 | 73.5 | 24.2 | 4.7 | 23.0 | |
| βA/βSoutheast Asian (Vietnamese) | αα/αα | 123 | 79.3 | 26.4 | 3.9 | 26.4 | |
| βA/βSoutheast Asian (Vietnamese) | αα/αα | 115 | 72.6 | 25.3 | 3.7 | 21.9 | |
| β-thalassaemia intermedia (n = 4) | βIVS2 654(C>T)/βChinese (Aγδβ)0 | αα/αα | 117† | 71.1† | 22.9† | 3.7† | 24.0† |
| βIVS2 654(C>T)/βSoutheast Asian (Vietnamese) | αα/αα | 113 | 63.7 | 21.0 | 3.0 | 95.7 | |
| β41/42(−CTTT)/βSoutheast Asian (Vietnamese) | αα/αα | 104 | 63.4 | 20.7 | 3.8 | 95.7 | |
| β−28(A>G)/βChinese (Aγδβ)0 | αα/αα | 77 | 78.9 | 24.0 | 2.3 | 84.8 | |
| β-thalassaemia major (n = 3) | β41/42(−CTTT)/βChinese (Aγδβ)0 | αα/αα | 78† | 72.9† | 22.3† | 2.6† | 32.0† |
| βIVS2 654(C>T)/βChinese (Aγδβ)0 | αα/αα | 70 | 75.1 | 24.1 | 0.3 | 99.5 | |
| β43(GAG>TAG)/βThai (Aγδβ)0 | αα/αα | 78† | 78.1† | 26.8† | 3.0† | 14.0† |
*Concomitant iron deficiency anaemia documented.
†Patients receiving regular red cell transfusion therapy.
MCH, mean corpuscular haemoglobin; MCV, mean corpuscular volume.