Screening cord blood for hemoglobinopathies and thalassemia by HPLC.
We evaluated the use of an HPLC method for screening hemoglobins in cord blood. We studied the genotype frequencies of the structural hemoglobin variants HbS and HbC and the synthesis variants alpha- and beta(+)-thalassemia in babies born on Curaçao. During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglobinopathy (HbS or HbC), 64 (52.2%) had alpha-thalassemia (HbBarts greater than 0.5%, corresponding to heterozygous or homozygous alpha-thalassemia-2), and 5 (4.1%) had a hemoglobinopathy plus alpha-thalassemia. None of the newborns with heterozygous HbS and HbC had concomitant beta(+)-thalassemia. The population genotype frequency of heterozygous alpha-thalassemia-2 was calculated to be 30.7%. The data are in excellent agreement with those previously established for the adult population and those available from the black population in the United States and Jamaica. Based on the HPLC results, we estimate that 67.1% of newborns with heterozygous alpha-thalassemia-2 remain undetected. A coincidental finding was a relation between demonstrable alpha-thalassemia and short gestation. Because of its superior separating power and high sensitivity for quantifying relatively low percentages of hemoglobins in the presence of HbF0, the HPLC method was preeminently suitable for screening cord-blood samples.
van der Dijs
F P
FP
Central Laboratory for Clinical Chemistry, University Hospital Groningen, The Netherlands.
van den Berg
G A
GA
Schermer
J G
JG
Muskiet
F D
FD
Landman
H
H
Muskiet
F A
FA
D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005069:Evaluation Studies as Topic; D005312:Fetal Blood; D005787:Gene Frequency; D005838:Genotype; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D015203:Reproducibility of Results; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis*
D006455:Hemoglobins, Abnormal