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  • Title: Characterization of a new alpha-thalassemia-1 deletion in a Spanish family.
    Author: Gonzalez-Redondo JM, Gilsanz F, Ricard P.
    Journal: Hemoglobin; 1989; 13(2):103-16. PubMed ID: 2544542.
    Abstract:
    A new type of alpha-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying a zeta-globin triplication. The resulting chromosome lacks the alpha 2- and alpha 1-globin genes, the psi alpha 2- and psi alpha 1-globin genes, and one of the three zeta-globin genes, while the other two zeta-globin genes and the theta 1-globin gene have been retained.
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