California Newborn Screening Program

How Common Are These Disorders in California?

In California, the prevalence of:

PKU is 1 in 27,000 births (classical PKU only)

Approximately 15-18 newborns with classical PKU are detected annually through the mandated Newborn Screening Program. Over 350 children have been identified with classical PKU since 1980.

Galactosemia is 1 in 73,000 births (classical only)

Approximately 4-8 newborns with galactosemia are identified in California every year.

Primary congenital hypothyroidism is 1 in 2,700 births

Approximately 200 newborns with primary congenital hypothyroidism are identified in California every year.

Sickle cell disease is about 1 per 4,400 births. The Newborn Screening Program detects approximately 125 newborns with sickle cell disease each year in California.

In addition, Beta thalassemia major and hemoglobin E/Beta thalassemia are detected, occurring in about 1 in 27,000 newborns in the State.

About five newborns with E/Beta thalassemia, four newborns with Beta thalassemia major and one each of C, D and E/Beta thalassemia are identified annually.

In California the incidence of Hemoglobin H disease is about 1 in 15,000 births, or about 35 to 40 cases per year are detected.