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

14 Citations (Scopus)

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

Fingerprint

Fetal Hemoglobin
Thalassemia
Globins
Multigene Family
Genes
Defects
Cloning
Molecular Cloning
DNA

ASJC Scopus subject areas

  • Hematology

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.

The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. / Camaschella, C.; Serra, A.; Saglio, G.; Baiget, M.; Malgaretti, N.; Mantovani, R.; Ottolenghi, S.

In: Blood, Vol. 70, No. 2, 1987, p. 593-596.

Research output: Contribution to journalArticle

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, vol. 70, no. 2, pp. 593-596.
Camaschella C, Serra A, Saglio G, Baiget M, Malgaretti N, Mantovani R et al. The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. Blood. 1987;70(2):593-596.
Camaschella, C. ; Serra, A. ; Saglio, G. ; Baiget, M. ; Malgaretti, N. ; Mantovani, R. ; Ottolenghi, S. / The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. In: Blood. 1987 ; Vol. 70, No. 2. pp. 593-596.
@article{1595dc06e84c47a681c542d746fa0774,
title = "The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases",
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.",
author = "C. Camaschella and A. Serra and G. Saglio and M. Baiget and N. Malgaretti and R. Mantovani and S. Ottolenghi",
year = "1987",
language = "English",
volume = "70",
pages = "593--596",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "2",

}

TY - JOUR

T1 - The 3' ends of the deletions of Spanish δβ°-thalassemia and black HPFH 1 and 2 lie within 17 kilobases

AU - Camaschella, C.

AU - Serra, A.

AU - Saglio, G.

AU - Baiget, M.

AU - Malgaretti, N.

AU - Mantovani, R.

AU - Ottolenghi, S.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0023201016&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023201016&partnerID=8YFLogxK

M3 - Article

VL - 70

SP - 593

EP - 596

JO - Blood

JF - Blood

SN - 0006-4971

IS - 2

ER -