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The Thalassemias are a hereditary form of hemolytic anemias characterized by a defect in the body's production of hemoglobin protein. Hemoglobin (Hb) is the oxygen-carrying component of red blood cells (RBC). Thus, with defective hemoglobin, RBC production is also impaired and the RBC's are unable to carry the necessary amount of oxygen. Hemoglobin is made of two different proteins, an a...

Alpha-1-Antitrypsin Deficiency is a rare disorder where the body makes an enzyme called alpha-1-antitrypsin (AAT) that does not work. This enzyme is needed to protect the lungs. Also, the non-working enzyme can build up in the liver and cause harm. Not having the enzyme AAT can result in lung and liver disease. ...

Alpha-Mannosidosis is a rare genetic disorder that usually manifests with mental retardation, hearing impairment, various bone changes, and recurrent infections. It is a part of a larger group of disorders known as the lysosomal storage diseases. ...

Alport syndrome (also known as hereditary nephritis) is a genetic disorder that primarily results in problems with hearing, the eye and the kidney. ...

Alström syndrome is a rare inherited disorder characterized by blindness, juvenile onset diabetes mellitus, obesity, and deafness. In some cases, people with Alström syndrome also experience developmental delay, academic difficulties, and problems with language skills. However, these deficits may partially be a result of the severe sensory deficits characteristic of the syndrome. Alström syndro...

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Full disease list by letter:
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