Type: Genetic
Beta-Thalassemia
Beta-Thalassemia What is Beta-Thalassemia? Beta-thalassemia (ORPHA: 848) is a rare inherited blood disorder that affects the production of beta-globin chains,…
Hereditary Angioedema
Hereditary Angioedema What is Hereditary Angioedema? Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe…
Primary Immunodeficiency
What is Primary Immunodeficiency? Primary immunodeficiency (PID) refers to a group of more than 400 rare genetic disorders that affect…
Pompe Disease
What is Pompe Disease? Pompe disease is a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA),…
Spinal Muscular Atrophy
What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder characterized by the progressive loss…
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy What is Duchenne Muscular Dystrophy? Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive…
Hemophilia B
Hemophilia B (Christmas Disease): A Comprehensive Guide What is Hemophilia B? Hemophilia B, also known as Christmas disease (ORPHA:98879), is…
Hemophilia A
What is Hemophilia A? Hemophilia A is a rare inherited bleeding disorder caused by a deficiency or dysfunction of clotting…