Birth Prevalence of Hemoglobin Disorders

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Background Data: Birth Prevalence of Hemoglobin Disorders in California Detectable through Newborn Screening by Race and Ethnicity

Recently, the Genetic Disease Screening Program of the California Department of Public Health summarized the birth prevalence rates for hemoglobin disorders from 2005 to 2010. 2,282,138 newborns were screened. The birth prevalence for specific disorders varied widely among racial and ethnic groups. Birth Prevalence Rates (per 100,000) for Hemoglobin Disorders/Conditions Identified Through California Newborn Screening Program by Expanded Race/Ethnicity Groups (July 2005 - July 2010, n= 2,282,138)*

Feuchtbaum Birth Prevalence table image Feuchtbaum Birth Prevalence table

* Group-specific birth prevalence rates higher than overall 99% confidence interval (CI) shown in bold; if rate falls within the 99% CI, indicated in non-bold type; if less than overall CI, indicated as “x”. (adapted from: Feuchtbaum L, et. al, Genetics in Medicine 2012:14;11, Table 2.)

The highest overall prevalence rate for hemoglobin disorders was for sickle cell disease, Hemoglobin EE and Hemoglobin H. Blacks had the highest rate for sickle cell disease. Birth prevalence for Hemoglobin EE was highest among Southeast Asians, and Hemoglobin H was prevalent among Southeast Asians, Vietnamese, Filipinos, Chinese, Japanese and Pacific Islanders. (Reference: Feuchtbaum L, et. al, Genetics in Medicine 2012:14;11).

Many of the Asian groups had higher rates of multiple types of thalassemia syndromes. Middle Eastern groups had the highest rate of Beta thalassemia.
Cumulative California birth prevalence of all metabolic, hemoglobin, endocrine, and cystic fibrosis disorders diagnosed by race/ethnicity (n = 2,282,138)

Feuchtbaum Birth Prevalence by Ethnicity Feuchtbaum Birth Prevalence by Ethnicity  

Results reflect all clinical determinations reported by California state-contracted follow-up centers for women referred for confirmatory testing following a positive newborn screening test result. (from: Feuchtbaum L, et. al, Genetics in Medicine 2012:14;11, Figure 1.)

The figure above presents the cumulative birth prevalence rates by disorder for each of the 16 racial ethnic groups (metabolic, hemoglobinopathies, endocrine, cystic fibrosis). Southeast Asians had the highest overall rate of newborn disorders due to the high birth prevalence of hemoglobinopathies in that group.