The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases

C. Camaschella, A. Serra, G. Saglio, M. Baiget, N. Malgaretti, R. Mantovani, S. Ottolenghi

Research output: Contribution to journalArticle

Abstract

Spanish δβ°-thalassemia, a mild thalassemic condition characterized by increased level of hemoglobin (Hb) F production during adult life, is known to be due to a large deletion starting within the β globin gene cluster and extending beyond the 3' breakpoint of any other similar deletional defects so far identified. By molecular cloning and by genomic mapping we now demonstrate that the deletion of Spanish δβ°-thalassemia ends at approximately 11 and 17 kilobases (kb) downstream to the 3' endpoints of black hereditary persistence of fetal hemoglobin (HPFH) type 1 and 2, respectively. As suggested by the complete characterization of this and other deletional defects involving the β globin gene cluster, the 5' and 3' breakpoints of several deletions cluster in rather restricted DNA areas, further strengthening the idea that common molecular mechanisms may operate in causing these deletions.

Original languageEnglish
Pages (from-to)593-596
Number of pages4
JournalBlood
Volume70
Issue number2
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases'. Together they form a unique fingerprint.

  • Cite this

    Camaschella, C., Serra, A., Saglio, G., Baiget, M., Malgaretti, N., Mantovani, R., & Ottolenghi, S. (1987). The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. Blood, 70(2), 593-596.