The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions

Gregg L. Semenza, Kathleen Delgrosso, Mortimer Poncz, Padmini Malladi, Elias Schwartz, Saul Surrey

Research output: Contribution to journalArticle

Abstract

A molecular genetic analysis has been performed using as subjects an Albanian family in which the father is a silent carrier, the mother has high Hb A2-β thalassemia trait, and both children have β thalassemia. Nucleotide sequence analysis of the daughter's paternal β-globin gene and its flanking regions failed to reveal any base changes of known functional significance. When introduced into HeLa cells the gene was expressed at normal levels with proper processing of RNA. Haplotype analysis revealed that the affected son and daughter inherited different ε{lunate}γδβ-globin gene clusters from the father. The silent carrier allele is not due to a mutation within the β-globin structural gene or its flanking regions and as such represents a novel form of β+ thalassemia.

Original languageEnglish (US)
Pages (from-to)123-128
Number of pages6
JournalCell
Volume39
Issue number1
DOIs
StatePublished - Nov 1984
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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