Cited by 692Hemoglobinopathies and Related DisordersGenetic Associations and EpidemiologyGenomics and Rare Diseases

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias

Weatherall, D. J.·2001·Nature Reviews Genetics

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Abstract

The remarkable phenotypic diversity of the beta-thalassaemias reflects the heterogeneity of mutations at the beta-globin locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. It is likely that phenotype-genotype relationships will be equally complex in the case of many monogenic diseases. These findings highlight the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability might be relatively low and several environmental agents are involved. They also emphasize the value of an understanding of phenotype-genotype relationships in designing approaches to gene therapy.

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The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Common West African HLA antigens are associated with protection from severe malaria
Hill, A. V. S., Allsopp, C. E. M., Kwiatkowski, D. P., Anstey, N. M., Twumasi, P., Rowe, P. A., Bennett, S., Brewster, D., McMichael, A. J., & Greenwood, B. M. (1991) · Nature · doi:10.1038/352595a0 · Cited by 1,573
Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria
McGuire, W. L., Hill, A. V. S., Allsopp, C. E. M., Greenwood, B. M., & Kwiatkowski, D. P. (1994) · Nature · doi:10.1038/371508a0 · Cited by 1,166
Pathogenesis and Treatment of Sickle Cell Disease
Bunn, H. F. (1997) · New England Journal of Medicine · doi:10.1056/nejm199709113371107 · Cited by 1,154 · cited 1×
“At this level of sickleable cells, or above, vaso-occlusive episodes are commo”
Background
The Thalassaemia Syndromes
Weatherall, D. J., & Clegg, J. B. (2001) · Wiley eBooks · doi:10.1002/9780470696705 · Cited by 1,077
Messenger RNA degradation in eukaryotes
Sachs, A. B. (1993) · Cell · doi:10.1016/0092-8674(93)80043-e · Cited by 846
The Thalassæmia Syndromes.
(1973) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.1973.tb111034.x · Cited by 808
Global prevalence of putative haemochromatosis mutations.
Merryweather‐Clarke, A. T., Pointon, J. J., Shearman, J. R., & Robson, K. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.4.275 · Cited by 781
The Molecular Basis of Blood Diseases.
(1987) · Annals of Internal Medicine · doi:10.7326/0003-4819-107-6-950_3 · Cited by 640

Show all 79 references

Research works printed but not linked: 6

Huisman, T. H. J., Carver, M. F. H. & Efremov, G. D. A Syllabus of Human Hemoglobin Variants (Sickle Cell Foundation, Augusta, Georgia, 1998).
Weatherall, D. J. Pathophysiology of thalassaemia. Clin. Haematol. 11 , 127–146 (1998).
Huisman, T. H. J., Carver, M. F. H. & Baysal, E. A Syllabus of Thalassemia Mutations 1– 309 (The Sickle Cell Anemia Foundation, Augusta, Georgia, 1997).A complete and detailed catalogue of all the published thalassaemia mutations and their geographical distribution up to 1997.
Kazazian, H. H., Dowling, C. E., Hurwitz, R. L., Coleman, M. & Adams, J. G. I. Thalassemia mutations in exon 3 of the β-globin gene often cause a dominant form of thalassemia and show no predilection for malarial-endemic regions of the world. Am. J. Hum. Genet. 45, A242 ( 1989).
Thein, S. L. in Baillière's Clinical Haematology. International Practice and Research: The Haemoglobinopathies (eds Higgs, D. R. & Weatherall, D. J.) 151–176 (Baillière Tindall, London, 1993).
Thein, S. L. & Weatherall, D. J. in Hemoglobin Switching. B. Cellular and Molecular Mechanisms (eds Stamatoyannopoulos, G. & Nienhuis, A. W.) 97–112 (Alan R. Liss, New York, 1989).

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Authors: Weatherall, D. J.
Affiliations: John Radcliffe Hospital (GB)
Corresponding author: Weatherall, D. J.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-04
Volume: 2
Issue: 4
Pages: 245-255
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/35066048
OpenAlex: W1598569053
Cited by: 692
References: 79
Citations by year: 2026: 13 · 2025: 17 · 2024: 27 · 2023: 32 · 2022: 16 · 2021: 31 · 2020: 27 · 2019: 28 · 2018: 39 · 2017: 32 · 2016: 33 · 2015: 29 · 2014: 26 · 2013: 35 · 2012: 26
FWCI: 5.59
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: genotype-phenotype correlation, beta-thalassemia, monogenic disorders, genetic modifiers, environmental factors, heritability, complex diseases, gene therapy
MeSH terms: Alleles, Bilirubin, Bone Diseases, Environment, Genes, Dominant, Genes, Recessive, Multigene Family, Genotype, Hemoglobins, Humans, Iron, Mutation, Phenotype, Thalassemia, Genetic Variation

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias

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