Universal newborn screening for Hb H disease in California.
Newborn screening is an accepted public health measure to ensure that appropriate health care is provided in a timely manner to infants with hereditary/metabolic disorders. Alpha-thalassemia is a common hemoglobin (Hb) disorder, and causes Hb H (beta4) disease, and usually fatal homozygous alpha(0)-thalassemia, also known as Hb Bart's (gamma4) hydrops fetalis syndrome. In 1996, the State of California began to investigate the feasibility of universal newborn screening for Hb H disease. Initial screening was done on blood samples obtained by heel pricks from newborns, and stored as dried blood spots on filter paper. Hb Bart's levels were measured as fast-moving Hb by automated high-performance liquid chromatography (HPLC) identical to that currently used in newborn screening for sickle cell disease. Subsequent confirmation of Hb H disease was done by DNA-based diagnostics for alpha-globin genotyping. A criterion of 25% or more Hb Bart's as determined by HPLC detects most, if not all cases of Hb H disease, and few cases of alpha-thalassemia trait. From January, 1998, through June, 2000, 89 newborns were found to have Hb H disease. The overall prevalence for Hb H disease among all newborns in California is approximately 1 per 15,000. Implementation of this program to existing newborn hemoglobinopathy screening in populations with significant proportions of southeast Asians is recommended. The correct diagnosis would allow affected infants to be properly cared for, and would also raise awareness for the prevention of homozygous alpha(0)-thalassemia or Hb Bart's hydrops fetalis syndrome.
Lorey
F
F
Genetic Disease Branch, California Department of Health Services, Berkeley 94704, USA. florey@dhs.ca.gov
Cunningham
G
G
Vichinsky
E P
EP
Lubin
B H
BH
Witkowska
H E
HE
Matsunaga
A
A
Azimi
M
M
Sherwin
J
J
Eastman
J
J
Farina
F
F
Waye
J S
JS
Chui
D H
DH
D001210:Asia, Southeastern / Q000208:ethnology; D001213:Asian; D002140:California; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D005914:Globins / Q000172:deficiency / Q000235:genetics; D006447:Hemoglobin H / Q000032:analysis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics / Q000517:prevention & control; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D015997:Neonatal Screening; D015995:Prevalence; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins; D006447:Hemoglobin H; C030448:hemoglobin Bart's; C035541:Hemoglobin Constant Spring