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A novel ϵγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient
Author(s) -
Furuya Chiemi,
Yamashiro Yasuhiro,
Hattori Yukio,
Hino Minako,
Nishioka Hiroko,
Shimizu Yoshihisa,
Okano Kozue,
Horibe Keizou
Publication year - 2008
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.21040
Subject(s) - thalassemia , breakpoint , genetics , mutation , gene , biology , hemoglobinopathy , microbiology and biotechnology , direct repeat , sequence (biology) , gene deletion , hemolytic anemia , base sequence , immunology , chromosomal translocation , mutant
Abstract A novel large deletion, causing ϵγδβ thalassemia (here called, ϵγδβ 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 ϵγδβ 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., 2008. © 2007 Wiley‐Liss, Inc.