α-Thalassemia Caused by a 16 BP Deletion in the 3′ Untranslated Region of the α2-Globin Gene Including the First Nucleotide of the Poly a Signal Sequence

H. Tamary Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva, 49202, Israel; Pediatric Hematology Laboratory Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tiqva, 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel

G. Klinger Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva, 49202, Israel

L. Shalmon Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva, 49202, Israel; Pediatric Hematology Laboratory Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tiqva, 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel

D. Attias Hematology Bnai Zion Medical Center, Haifa, 31048, Israel

P. Fortina Department of Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

M. Kobayashi Department of Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

S. Surrey Department of Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

R. Zaizov Department of Pediatric Hematology/Oncology, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva, 49202, Israel; Pediatric Hematology Laboratory Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tiqva, 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel

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Abstract

We have identified a 16 bp deletion in the 3 untranslated region of the α2-globin gene, including the first nucleotide of the polyadenylation signal sequence. The propositus, her mother and one of her brothers, all heterozy-gotes for the above deletion, have mild microcytic anemia. This is the first description of a deletion in the a gene involving both the 3′ untranslated region and the polyadenylation signal sequence, causing α-thalassemia.

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α-Thalassemia Caused by a 16 BP Deletion in the 3′ Untranslated Region of the α2-Globin Gene Including the First Nucleotide of the Poly a Signal Sequence

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α-Thalassemia Caused by a 16 BP Deletion in the 3′ Untranslated Region of the α2-Globin Gene Including the First Nucleotide of the Poly a Signal Sequence

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