Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_000016.10:g.173384_177187del | 1 | |||
| NM_000517.6:c.95+2_95+6del | 1 | |||
| NG_059281.1:g.4962G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604131.9.1 | Lebanon | Hypochromic microcytic anemia; Recurrent respiratory infections | Male | Yes | Proband exhibited two HBA2 and one HBB variant. Non-severe thalassemia phenotype due to polygenic seggregation. | |
| 604131.9.3 | Lebanon | Decreased mean corpuscular hemoglobin concentration; Decreased mean corpuscular volume | Male | Yes | Father of 604131.9.1. Normal Hb with decreased mean corpuscular volume and hemoglobin concentration. | |
| 604131.9.4 | Lebanon | Hypochromic anemia | Female | Yes | Mother of 604131.9.1. |