alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence.
We have identified a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene, including the first nucleotide of the polyadenylation signal sequence. The propositus, her mother and one of her brothers, all heterozygotes for the above deletion, have mild microcytic anemia. This is the first description of a deletion in the alpha gene involving both the 3' untranslated region and the polyadenylation signal sequence, causing alpha-thalassemia.
Tamary
H
H
Department of Pediatric Hematology/Oncology Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
Klinger
G
G
Shalmon
L
L
Attias
D
D
Fortina
P
P
Kobayashi
M
M
Surrey
S
S
Zaizov
R
R
D000740:Anemia / Q000150:complications / Q000235:genetics; D002648:Child; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011061:Poly A / Q000235:genetics*; D021382:Protein Sorting Signals / Q000235:genetics; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
D021382:Protein Sorting Signals; D011061:Poly A; D005914:Globins