Abstract
We applied a recently developed and more direct technic to diagnose thalassemia syndromes associated with deletion of particular globin structural genes and to assess a fetus at risk for one of those conditions, δβ-thalassemia. The method allows assessment of the globin genes present in total cellular DNA and is applicable to amniotic-fluid cell DNA. Cellular DNA fragments produced by cleavage using two specific restriction endonucleases are separated on the basis of size by agarose-gel electrophoresis, and the distribution of specific sequences among the DNA fragments determined by molecular hybridization. We observed the total deletion of α-globin genes in homozygous α-thalassemia (hydrops fetalis with hemoglobin Bart's) and the deletion of particular β and β-like sequences in cases homozygous for hereditary persistence of fetal hemoglobin and δβ-thalassemia. Analysis of amniotic-fluid cell DNA from a fetus at risk for δβ-thalassemia demonstrated the feasibility of these improved methods for antenatal diagnosis. The molecular studies confirmed the diagnosis predicted by analysis of fetal blood and established at birth.
Original language | English (US) |
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Pages (from-to) | 166-172 |
Number of pages | 7 |
Journal | New England Journal of Medicine |
Volume | 299 |
Issue number | 4 |
State | Published - 1978 |
Externally published | Yes |
ASJC Scopus subject areas
- General Medicine