Table 1 Summary of patients’ demographics and findings captured from 16 studies
Demographics | N | % |
|---|---|---|
Variants collected | 105 | |
Unique variants | 81 | 77% |
Shared variant | 24 | 23% |
Patients screened | 4142 | |
Patients with variants | 211 | 5% |
Number of patients with variants by country | ||
Iran | 57 | 27.0% |
Turkey | 50 | 23.7% |
Kingdom Saudi Arabia (KSA) | 50 | 23.7% |
Egypt | 36 | 17.1% |
Lebanon | 4 | 1.9% |
Jordan | 10 | 4.7% |
Tunisia | 3 | 1.4% |
Iraq | 1 | 0.5% |
Consanguinity in patients with variants | ||
Yes | 153 | 72.5% |
Not specified | 51 | 24.2% |
No | 7 | 3.3% |
Patients' zygosity status | ||
Homozygous | 190 | 90.0% |
Compound heterozygous | 21 | 10.0% |
Phenotype severity | ||
Severe (classic) | 142 | 67.3% |
Moderate/Mild/Intermediate | 23 | 10.9% |
Not reported/Unknown | 46 | 21.8% |