@article{0f89422bbc8d45939e010bfebebde01e,
title = "The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions",
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.",
author = "Semenza, {Gregg L.} and Kathleen Delgrosso and Mortimer Poncz and Padmini Malladi and Elias Schwartz and Saul Surrey",
note = "Funding Information: The authors are grateful to Eric Rappaport for hrs assistance in the analysis of the a-globrn gene IOCI and to both him and Carol Way for expert assrstance in the preparatron of the manuscript. We would also like to acknowledge the generosity of B. Forget and T. Manratis, who provrded recombinant plasmids and phages; G. Grosveld, H Lehrach, T. Maniatrs, and R. Treisman for therr gifts of clonrng and expression vectors; and J. Messrng and H. Lehrach for providrng bacterial strains. This work was supported rn part by National lnstrtutes of Health Grants AM16691 and HL28157. a grant from UNICO, and NIH Research Servrce Award HL07150. G. L. S was supported by the Medical Scientist Trarning Program at the Unrversity of Pennsylvania through NIH Grant 5-T32-GM07170.",
year = "1984",
month = nov,
doi = "10.1016/0092-8674(84)90197-1",
language = "English (US)",
volume = "39",
pages = "123--128",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "1",
}