A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction.
OBJECTIVE
We present in a brief summary the basic aspects of the most rational technologies used for new born screening (NBS) of the hemoglobinopathies and we report the preliminary results for the identification of beta-thalassemia carriers at birth by measuring the expression of the HbA fraction.


METHODS
Separation and measurement of the Hb fractions in 1.500 cord blood samples collected among the multi-ethnic Dutch population using different methods.


RESULTS
By using a cut of <15% HbA we have found 4 carriers of point mutations defects 3 of which among a group of 34 newborns of ethnic origin and one among 120 north Europeans.


CONCLUSIONS
All methods for NBS summarized in this paper provide identification at practically 100% sensitivity and high specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the gestation age and the HbA expression, we believe that carriers of beta-thalassemia can be preselected at birth with a reasonable degree of sensitivity and be confirmed by parent analysis.
Mantikou
Eleni
E
Human and Clinical Genetics Department, Hemoglobinopathies Laboratory, Leiden University Medical Center, O and O Building, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands, PO Box 9600, 2300 RC Leiden, The Netherlands.
Arkesteijn
Sandra G
SG
Beckhoven van
Jaqueline M
JM
Kerkhoffs
Jean-Louis
JL
Harteveld
Cornelis L
CL
Giordano
Piero Carlo
PC
D015331:Cohort Studies; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006441:Hemoglobin A / Q000032:analysis*; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D011247:Pregnancy; D015995:Prevalence; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D055544:beta-Globins; D006441:Hemoglobin A