Table 3. Summary of the genetic studies performed in the study GTLS families.
| GTLS Families | Individuals | GTLS Patients | Healthy relatives | Affected gene | Genetic studies | Heterozygous mutation(+/-) | Non-mutated(-/-) | |
|---|---|---|---|---|---|---|---|---|
| F1 | 12 | 8 | 4 | ITGA2B | 4 | 4 | 0 | |
| F2 | 2 | 2 | 0 | ITGA2B | 2 | 2 | 0 | |
| F3 | 3 | 2 | 1 | ITGA2B | 3 | 2 | 1 | |
| F4 | 1 | 1 | 0 | ITGA2B | 1 | 1 | 0 | |
| F5 | 2 | 2 | 0 | ITGA2B | 2 | 2 | 0 | |
| F6 | 6 | 4 | 2 | ITGB3 | 5 | 4 | 1 | |
| F7 | 3 | 2 | 1 | ITGB3 | 3 | 2 | 1 | |
| F8 | 5 | 4 | 1 | ITGB3 | 4 | 3 | 1 | |
| F9 | 8 | 6 | 2 | ITGB3 | 8 | 6 | 2 | |
| F10 | 2 | 2 | 0 | ITGB3 | 2 | 2 | 0 | |
| All families | 44(100%) | 33(75%) | 11(25%) | ITGA2B(5) | ITGB3 (5) | 34(100%) | 28(82%) | 6 (18%) |
Abbreviations: GTLS, Glanzmann Thrombasthenia like syndrome.