Disease ID | Source | Name | Description |
613977 | OMIM | Cyanosis transient neonatal (TNCY) | A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. The disease is caused by variants affecting the gene represented in this entry. |