Biochemical and molecular aspects of βthalassemia types in northern sardinia

B. Masala, L. Manca, D. Gallisai, A. Stangoni, K. D. Lanclos, Ferdane Kutlar, K. G. Yang, T. H J Huisnan

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Forty-three patients with βthalassemia from Northern Sardinia (31 severe and polytransfused, six follow-up babies, five adults with mild thalassemia who were not transfusion dependent, and a young transfused patient was also affected by a disease of intermediate severity) were studied in order to establish the fetal hemoglobin composition, restriction fragment 1ength polymorphisin haplotypes at the βglobin gene cluster, and the type(s) of mutation. Haplotype II was prevalent, [56/86 chromosomes (65%], haplotype I was also fairly common, [22/86 chromosomes (25%], while other types were relatively rare. The nonsense mutation at codon 39 was nearly exclusive, [76/80 chromosomes (95%]. Other βthalassemia mutations occurred on chromosomes with haplotypes 111, IX, X, and perhaps V, and a new type related to II. The mutated AγT gene was associated with type type II, X, and the new type. Type IX was linked to a βd̀ gene and to an Xmn I site 5' to the Gγ gene, to a high Gγ globin level, and to a disease of mild severity. Type I11 was associated with a β++thalassemic gene. The d̀39 mutation linked to type I1 was associated with thalassemia intermedia in three patients.

Original languageEnglish (US)
Pages (from-to)661-671
Number of pages11
JournalHemoglobin
Volume12
Issue number5-6
DOIs
StatePublished - Jan 1 1988

Fingerprint

Thalassemia
Haplotypes
Italy
Chromosomes
Genes
Globins
Mutation
Chromosomes, Human, Pair 22
Fetal Hemoglobin
Nonsense Codon
beta-Thalassemia
Multigene Family
Codon
Chemical analysis

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical
  • Biochemistry

Cite this

Masala, B., Manca, L., Gallisai, D., Stangoni, A., Lanclos, K. D., Kutlar, F., ... Huisnan, T. H. J. (1988). Biochemical and molecular aspects of βthalassemia types in northern sardinia. Hemoglobin, 12(5-6), 661-671. https://doi.org/10.3109/03630268808991659

Biochemical and molecular aspects of βthalassemia types in northern sardinia. / Masala, B.; Manca, L.; Gallisai, D.; Stangoni, A.; Lanclos, K. D.; Kutlar, Ferdane; Yang, K. G.; Huisnan, T. H J.

In: Hemoglobin, Vol. 12, No. 5-6, 01.01.1988, p. 661-671.

Research output: Contribution to journalArticle

Masala, B, Manca, L, Gallisai, D, Stangoni, A, Lanclos, KD, Kutlar, F, Yang, KG & Huisnan, THJ 1988, 'Biochemical and molecular aspects of βthalassemia types in northern sardinia', Hemoglobin, vol. 12, no. 5-6, pp. 661-671. https://doi.org/10.3109/03630268808991659
Masala B, Manca L, Gallisai D, Stangoni A, Lanclos KD, Kutlar F et al. Biochemical and molecular aspects of βthalassemia types in northern sardinia. Hemoglobin. 1988 Jan 1;12(5-6):661-671. https://doi.org/10.3109/03630268808991659
Masala, B. ; Manca, L. ; Gallisai, D. ; Stangoni, A. ; Lanclos, K. D. ; Kutlar, Ferdane ; Yang, K. G. ; Huisnan, T. H J. / Biochemical and molecular aspects of βthalassemia types in northern sardinia. In: Hemoglobin. 1988 ; Vol. 12, No. 5-6. pp. 661-671.
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