Researchers from the Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause ...

Hereditary angioedema (HAE) is a rare, autosomal dominant disorder defined by episodic, potentially life‐threatening swellings that can affect the skin, gastrointestinal tract, and upper airways.

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's ...

Iron deficiency anemia occurs when there are insufficient red blood cells due to a lack of iron. In some cases, iron deficiency anemia can be genetic, as people can pass genetic variations onto their ...

Emphysema is not hereditary. It usually results from smoking or exposure to other harmful lung irritants. However, a rare genetic condition called alpha-1 antitrypsin deficiency (AATD) passed down in ...

Hereditary angioedema (HAE) is a rare genetic disorder that causes episodes of severe swelling throughout your body. It is caused by abnormal immune responses. But unlike allergic swelling, HAE is not ...

Thrombate III is the only antithrombin concentrate approved in both adult and pediatric patients for hereditary antithrombin deficiency. The Food and Drug Administration (FDA) has expanded the ...