Table 1. AT mutations, phenotypic and genotypic features identified in Indian DVT patients.
Patient ID No. | Subject | Exon/ Intron | Change Identified | Type of AT deficiency | APTT/ PT/TT (seconds) 1 | Age of first thrombosis/ Sex | Clinical features | AT activity (%) | AT antigen (%) |
---|---|---|---|---|---|---|---|---|---|
FI | I:2 | 786G | I | 12.33, 5.00, 14.00 | NA/M | Asymptomatic | 55 | 40 | |
II:1 | Intron 1 | 786A | I | 8.00, 6.00, 18.33 | 20/M | RecurrentDVT | 52 | 40 | |
II:2 | Intron 1 | 786A | I | 12.33, 7.00, 15.00 | 19/M | RecurrentDVT | 55 | 39 | |
FII | I:2 | Exon 2 | 2603C> T | II | 7.50, 10.00, 19.00 | NA /F | Asymptomatic | 28 | 100 |
II:1 | Exon 2, 6 | 2603T> C, 13363insA | II | 6.33, 10.00, 20.00 | 28/F | DVT | 57 | 94 | |
II:5 | Exon 2, 6 | 2603T> C, 13363insA | II | 9.00, 11.00, 8.00 | NA /F | Asymptomatic | 75 | 100 | |
II:6 | Exon 2, 6 | 2603T> C, 13363insA | II | 15.66, 7.00, 18.50 | NA /M | Asymptomatic | 68 | 100 | |
PRS | - | Exon 2 | 2455C>A | I | 14.00, 12.00, 8.00 | 52/M | DVT | 65 | 60 |
PSh | - | Intron 5 | 9893 G>C | I | 9.00, 6.00, 8.00 | 12/M | DVT | 69 | 50 |
PRn | - | Exon 4 | 7549 A>G | II | 9.00, 13.00, 15.50 | 30/F | DVT | 53 | 96 |
PRa | - | Exon 4 | 7626A>G | I | 6.00, 6.00, 15.50 | 35/F | Recurrent DVT | 75 | 52 |
PSBe | - | Exon 4, Intron 1 | 7626G>A 786G>A | I | 7.00, 4.00, 11.33 | 23/F | RecurrentDVT | 6 | 65 |
PSa | - | Exon 4, Intron 1 | 7626G>A 786G>A | II | 6.30, 7.00, 12.00 | 24/F | Recurrent DVT | 77 | 83 |
PSB | - | Exon 4 | 7626A>G | I | 10.00, 7.00, 10.00 | 34/M | ACD 2 with chronic BCS 3 | 77 | 75 |
PNJ | - | Exon 4 | 7626A | I | 9.50, 13.00, 8.00 | 26/F | Recurrent DVT | 65 | 79 |
1 Normal laboratory ranges: APTT; 25s, PT; 13s and TT; 16s
2 Acute Coronary Disease
3 Budd Chiari Syndrome