Urinary testing may also be undertaken. Therapy is to reduce phe in the diet. It is common in eastern European Jews. Onset of the disease occurs at about 3-6 months of age. Death usually occurs by age 2-3 years.
Diagnostic testing is available.
Therapy seems to be symptomatic. This disease is inherited in a manner consistent with autosomal recessive characteristics. It seems to be on 16p. With inactivation of 3 of the 4 a -globin chains, a form of hemoglobin known as HbH forms. This causes hemolytic anemia.