Compound heterozygosity Hb S/Hb Hope (beta 136 Gly-->Asp): a pitfall in the newborn screening for sickle cell disease.
The presence of Hb Hope associated with Hb S may represent a pitfall (false positive) in the neonatal detection of sickle cell disease by two of the most widely used analytical methods in screening programmes-isoelectric focusing (IEF) and high performance liquid chromatography (HPLC). This example illustrates the need to improve analytical strategies to avoid unnecessary anxiety and summoning of families often from a cultural background in which testing of the father is difficult to obtain. It is suggested that using two independent HPLC procedures might improve the specificity of the screening strategies. Additionally, simple procedures for detection of the most common mutations of the beta globin gene of DNA extracted from dried blood specimens could be easily developed for the control of abnormal samples. These procedures could be introduced into the analytical strategy.
Ducrocq
R
R
Hôpital Robert Debré, Paris France.
Bévier
A
A
Leneveu
A
A
Maier-Redelsperger
M
M
Bardakdjian-Michau
J
J
Badens
C
C
Elion
J
J
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D006580:Genetic Carrier Screening; D005998:Glycine / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D015997:Neonatal Screening; D017354:Point Mutation
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; C038623:hemoglobin Hope; D005998:Glycine