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Genotype phenotype relationships in beta thalassaemias

Year 1998, Volume: 11 Issue: 4, 224 - 228, 01.10.1998

Abstract

The homozygous state for B-thalassaemia usually results In thalassaemia major, which requires monthy blood transfusions and regular infusions of the iron chelating agent desferrioxamine, for life. Some patients are less severely affected and survive either with no blood transfusion or without regular blood transfusion. This milder syndrome is termed thalassaemia intermedia. A significant amount of genetic information is now available in order to predict the thalassaemia intermedia phenotype from the genotype. Important ameliorating genetic factors are mild p-thalassaemia mutations, co-inheritance of a- thalassaemia, and presence of polymorphisms adjacent to the (3-globin gene complex or mutations that increase HbF production by enhancing gamma- globin chain production. Accurate and precise prediction of phenotype from genotype will have important implications for prenatal diagnosis. Early diagnosis of thalassaemia intermedia is also important in order to avoid treatment with regular blood transfusions as for thalassaemia major, since a significant part of the morbidity and mortality arises from iron overload due to regular transfusion.

References

  • Erlandson ME, Brilliant R, Smith CM. Comparison of sixty-six patients with thalassaemia major and thirteen patients with thalassaemia intermedia. Ann MY Acad Sci 1964; 119:72 7-735.
Year 1998, Volume: 11 Issue: 4, 224 - 228, 01.10.1998

Abstract

References

  • Erlandson ME, Brilliant R, Smith CM. Comparison of sixty-six patients with thalassaemia major and thirteen patients with thalassaemia intermedia. Ann MY Acad Sci 1964; 119:72 7-735.
There are 1 citations in total.

Details

Subjects Clinical Sciences
Journal Section Review Makaleler
Authors

S. Ratip This is me

M. Bayik This is me

T. Akoglu This is me

Publication Date October 1, 1998
Published in Issue Year 1998 Volume: 11 Issue: 4

Cite

APA Ratip, S., Bayik, M., & Akoglu, T. (1998). Genotype phenotype relationships in beta thalassaemias. Marmara Medical Journal, 11(4), 224-228.
AMA Ratip S, Bayik M, Akoglu T. Genotype phenotype relationships in beta thalassaemias. Marmara Med J. October 1998;11(4):224-228.
Chicago Ratip, S., M. Bayik, and T. Akoglu. “Genotype Phenotype Relationships in Beta Thalassaemias”. Marmara Medical Journal 11, no. 4 (October 1998): 224-28.
EndNote Ratip S, Bayik M, Akoglu T (October 1, 1998) Genotype phenotype relationships in beta thalassaemias. Marmara Medical Journal 11 4 224–228.
IEEE S. Ratip, M. Bayik, and T. Akoglu, “Genotype phenotype relationships in beta thalassaemias”, Marmara Med J, vol. 11, no. 4, pp. 224–228, 1998.
ISNAD Ratip, S. et al. “Genotype Phenotype Relationships in Beta Thalassaemias”. Marmara Medical Journal 11/4 (October 1998), 224-228.
JAMA Ratip S, Bayik M, Akoglu T. Genotype phenotype relationships in beta thalassaemias. Marmara Med J. 1998;11:224–228.
MLA Ratip, S. et al. “Genotype Phenotype Relationships in Beta Thalassaemias”. Marmara Medical Journal, vol. 11, no. 4, 1998, pp. 224-8.
Vancouver Ratip S, Bayik M, Akoglu T. Genotype phenotype relationships in beta thalassaemias. Marmara Med J. 1998;11(4):224-8.