Diseases

Alpha Thalassemia

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Alpha-1 antitrypsin (a1at) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease (cirrhosis).

SYMPTOMS

Fatigue, weakness, or shortness of breath, a pale appearance or a yellow color to the skin (jaundice), irritability, deformities of the facial bones, slow growth, a swollen abdomen, dark urine.

CAUSES

A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. A loss of one alpha-globin allele is found in alpha thalassemia silent carriers.