Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease.
A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.
Gonzalez-Redondo
J M
JM
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Diaz-Chico
J C
JC
Malcorra-Azpiazu
J J
JJ
Balda-Aguirre
M I
MI
Huisman
T H
TH
D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D013789:Thalassemia / Q000235:genetics*
D015342:DNA Probes; D005914:Globins