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α‐thalassemia‐1 (— −‐ CAL mutation) in a Spanish family
Author(s) -
Villegas A.,
Sanchez J.,
Gonzalez F. A.,
Carreño D. L.,
Ropero P.
Publication year - 1994
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.2830460421
Subject(s) - thalassemia , mutation , genetics , hemoglobinopathy , gene , biology , microbiology and biotechnology , hemolytic anemia , immunology
We have detected a second family (five members affected) with a large (32 kb) deletion involving the α 1 , α 2 , ψα 1 , ψα 2 ,ψζ 1 , and ζ‐globin genes. This mutation has been previously described in Calabria, Italy, in a child and his mother and has been named α‐thalassemia −‐ −‐ CAL . © 1994 Wiley‐Liss, Inc.