Characterization of hemoglobin variants. Prenatal diagnosis on a fetus at risk of having the hemoglobin variants S and/or C in combination with beta-thalassemia.
The determination of hemoglobin types in a fetus whose father and mother were heterozygous for Hb S and Hb C, respectively, is used as an example for demonstrating different techniques. The parents were furthermore suspected of being heterozygous for beta-thalassemia. Several of the possible combinations give rise to such serious conditions that abortus provocatus would be considered. The conclusion from the analyses was that the fetus was normal, having no variants nor thalassemia.
Blanke
S
S
Dept. of Clinical Chemistry, Rigshospitalet, University of Copenhagen.
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D005312:Fetal Blood / Q000032:analysis; D006445:Hemoglobin C Disease / Q000175:diagnosis* / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007526:Isoelectric Point; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006454:Hemoglobins