Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.92+5G>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.45.1 | United Arab Emirates | Pallor; Irritability; Anemia; Decreased mean corpuscular volume; Hypochromia | Female | Proband | ||
| 613985.45.2 | United Arab Emirates | Abnormal hemoglobin | Male | Father of 613985.45.1 - compound heterozygous for Hb D-Punjab/β-thal (IVS-I-5). |