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Molecular characterization of a new family with α‐Thalassemia‐1 (—— MA mutation)
Author(s) -
Villegas Ana,
Sanchez Jesus,
Carreno Dolores L.,
Ropero Paloma,
Gonzalez Fernando A.,
Espinos Domingo,
Penalver Maria A.,
Lozano Matilde
Publication year - 1995
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.2830490407
Subject(s) - thalassemia , genetics , alpha (finance) , gene , mutation , microbiology and biotechnology , dna , alpha thalassemia , biology , alpha globulin , cluster (spacecraft) , genotype , medicine , construct validity , nursing , computer science , patient satisfaction , programming language
A Spanish family with α‐thalassemia‐1 (α‐Thal‐1), deletion (— MA ), is described. In addition to the loss of 22 kb of DNA with a deletion of the α 1 , α 2 , α 1 , α 2 , and Ψζ 1 genes, a triplication of the ζ gene cluster in “cis” is produced. The structure of this triplication is formed by the Ψα 1 , gene, the interzeta region, and, possibly, the insertion of the Ψα 2 fragment. © 1995 Wiley‐Liss, Inc.