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Characterization of a newly discovered α‐thalassaemia‐1 in two Spanish patients with Hb H disease
Author(s) -
GonzalezRedondo J. M.,
DiazChico J. C.,
MalcorraAzpiazu J. J.,
BaldaAguirre M. I.,
Huisman T. H. J.
Publication year - 1988
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1988.tb02517.x
Subject(s) - hypervariable region , hemoglobinopathy , gene , genetics , biology , thalassemia , globin , microbiology and biotechnology , hemolytic anemia , immunology
A new deletion of more than 27 kb, removing the Ψζ1, Ψα2, Ψα1, α2, α1 and θ1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5’end point of the deletion is located between the ζ and Ψζ genes, and the 3’end of the deletion is downstream of the 3’hypervariable region.