A novel ϵγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient

Abstract

A novel large deletion, causing ecdb thalassemia (here called, ecdb thalassemia Jpn-I) was discovered in a 6-year-old Japanese boy. He was born uneventfully, but revealed thalassemia minor after birth. The mutation was inherited from his mother. The deletion, caused by an illegitimate recombination extended from 750 kb upstream to 660 kb downstream of e-globin gene, and removed about 1.4 Mb of DNA, the largest in ecdb thalassemias. A 19-nucleotide orphan sequence and direct repeats were present at the junction. The deletion lost several functional genes, but no relevant symptoms manifested. The breakpoints were determined by relatively simple methods. Am. J. Hematol. 83:84-86, 2008. V

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

“…, IV‐8 and V‐2, Table ). Similar findings were reported also by others . The reason for the difference in the clinical picture is obscure.…”

“… in 1972 were the first to describe the epsilon gamma delta beta (εγδβ)‐thalassemias, a group of rare sporadic disorders caused by deletions of the β‐globin gene cluster. Reports originating mainly in northern Europe have since described 30 unique εγδβ‐deletions (Table ).…”

A novel ( ) -thalassemia deletion associated with an globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

“…1,9 The occurrence of early manifestations in this case is explained by the increasing imbalance between the α and non α-globin chains ratio during fetal life. In our case III.2, the association with the triplicated α-genes increased the imbalanced α/non α-globin ratio which explains the "fetal thalassemia intermedia" requiring blood transfusions during the intra-uterine period.…”

“…[1][2][3] The α/non α-globin chain ratio is imbalanced like in β thalassemia patients but without elevation of HbF or HbA2. 4 They are characterized by a moderately severe neonatal hemolytic anemia with hypochromia but they distinguish from β-thalassemic patients because they may need red blood cell (RBC) transfusions for the first six months of life.…”

“…Careful follow-up of both the fetus and the mother, if carrier of the (εγδβ)°-thalassemia deletion, is mandatory. Successful unrelated donor stem cell transplantation for advanced myelofibrosis in an adult patient with history of orthotopic liver transplantation Patriarca et al 1 recently reported a significant improvement in outcome of patients with myelofibrosis (MF) after allogeneic stem cell transplantation (SCT). Some MF patients present to the transplant center with severe complications after a long disease history and their treatment may be very challenging.…”