Partial deletion of the 5' β-globin gene region causes β°-thalassemia in members of an American black family

Babu J Padanilam, A. E. Felice, T. H J Huisman

Research output: Contribution to journalArticle

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Abstract

Restriction endonuclease mapping defined a partial deletion of about 1.35 kb in the β-globin gene of a black American patient with hemoglobin S-β° -thalassemia and in his uncle with a β°-thalassemia trait. The 5' endpoint of the deletion is about 600 bases upstream from the cap site, and the 3' endpoint lies within about 500 bases from the 5' splice junction of the second intervening sequence. The deletion is different from that of a previously reported Indian β°-thalassemia allele, where 0.6 kb is deleted at the 3' end of the β-globin gene.

Original languageEnglish (US)
Pages (from-to)941-944
Number of pages4
JournalBlood
Volume64
Issue number4
StatePublished - Jan 1 1984
Externally publishedYes

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Thalassemia
Globins
Genes
Sickle Hemoglobin
DNA Restriction Enzymes
Introns
Restriction Mapping
Alleles

ASJC Scopus subject areas

  • Hematology

Cite this

Partial deletion of the 5' β-globin gene region causes β°-thalassemia in members of an American black family. / Padanilam, Babu J; Felice, A. E.; Huisman, T. H J.

In: Blood, Vol. 64, No. 4, 01.01.1984, p. 941-944.

Research output: Contribution to journalArticle

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