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Identification of a Nondeletion Defect in α-Thalassemia
Abstract
The molecular defect that has been demonstrated in alpha-thalassemia is the deletion of the alpha-globin structural genes. Since thalassemias are composed of heterogeneous groups of disorders, other types of defects could also result in alpha-thalassemia. We studied a Chinese family in which analysis of the mode of inheritance of alpha-thalassemia-1 and hemoglobin-H disease suggests a lesion that is not due to structural-gene deletion. Molecular hybridization studies with synthetic radioactive DNA's complementary to alpha-globin mRNA sequences show that in addition to the usual deletion defect, a nondeletion defect produces the phenotype of alpha-thalassemia-1. The combination of the deletion and non-deletion defects results in hemoglobin-H disease and not homozygous alpha-thalassemia associated with hydrops fetalis.
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Citations
Cited by
Kan, Y. W., & Dozy, A. M. (1978) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.75.11.5631 · Cited by 801
Self-citationDetection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.
Conner, B. J., Reyes, A. A., Morin, C., Itakura, K., Teplitz, R. L., & Wallace, R. B. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.1.278 · Cited by 531
ANTENATAL DIAGNOSIS OF SICKLE-CELL ANÆMIA BY D.N.A. ANALYSIS OF AMNIOTIC-FLUID CELLS
Wai Kan, Y., & Dozy, A. (1978) · The Lancet · doi:10.1016/s0140-6736(78)91629-x · Cited by 374
Self-citationThe Molecular Basis of -Thalassemia
Higgs, D. R. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a011718 · Cited by 126
A young type III hyperlipoproteinemic patient associated with apolipoprotein E deficiency
Mabuchi, H., Itoh, H., Takeda, M., Kajinami, K., Wakasugi, T., Koizumi, J., Takeda, R., & Asagami, C. (1989) · Metabolism · doi:10.1016/0026-0495(89)90249-7 · Cited by 70
Metadata
- Authors
- Kan, Y. W., Dozy, A. M., Trecartin, R., & Todd, D.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1977-11-17
- Volume
- 297
- Issue
- 20
- Pages
- 1081-1084
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2333285502
- Cited by
- 191
- References
- 0
- FWCI
- 13.97
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kan, Y. W., Dozy, A. M., Trecartin, R., & Todd, D. (1977). Identification of a Nondeletion Defect in α-Thalassemia. New England Journal of Medicine. https://doi.org/10.1056/nejm197711172972002
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