Characterization of a new alpha-thalassemia-1 deletion in a Spanish family.
A new type of alpha-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying a zeta-globin triplication. The resulting chromosome lacks the alpha 2- and alpha 1-globin genes, the psi alpha 2- and psi alpha 1-globin genes, and one of the three zeta-globin genes, while the other two zeta-globin genes and the theta 1-globin gene have been retained.
Gonzalez-Redondo
J M
JM
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Gilsanz
F
F
Ricard
P
P
D000328:Adult; D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006403:Hematologic Tests; D006441:Hemoglobin A / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D015183:Restriction Mapping; D013030:Spain; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2; D004262:DNA Restriction Enzymes