Prenatal diagnosis of hemoglobin H disease.
Hemoglobin H disease was diagnosed prior to the twenty-second week of gestation in a pregnancy at risk for homozygous alpha-thalassemia using the technique of DNA-DNA hybridization. Fetal DNA was obtained from amniotic fluid fibroblasts obtained during the thirteenth week of gestation and grown in culture. The fetal fibroblast DNA was hybridized to radioactive alpha-globin cDNA. The number of alpha-globin genes present in the fetus was determined by comparing results of hybridization studies on the fetal DNA to similar studies on subjects with well-defined alpha-thalassemia syndromes and with normal subjects. The diagnosis of hemoglobin H disease was confirmed at birth by studies of the cord blood. This study confirms the ability of DNA-DNA hybridization techniques to distinguish the three-gene defect of hemoglobin H disease from the lethal four-gene defect of homozygous alpha-thalassemia.
D000510:Alpha-Globulins; D000653:Amniotic Fluid; D004247:DNA; D005260:Female; D005312:Fetal Blood; D005347:Fibroblasts; D006447:Hemoglobin H; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics
D000510:Alpha-Globulins; D006455:Hemoglobins, Abnormal; D004247:DNA; D006447:Hemoglobin H