PMID: 9544969Apr 17, 1998Paper

Combined effect of two different polymorphic sequences within the beta globin gene cluster on the level of HbF

American Journal of Hematology
Isabel GonçalvesL O Almeida

Abstract

Beta thalassemia and Hb Lepore heterozygotes included in this study exhibit fetal hemoglobin levels varying from trace quantities to 14% (1.74 g/dl) of total hemoglobin in the adult. In this work, we have examined the correlation of DNA sequence polymorphisms with the observed HbF level. The analysis of polymorphic markers within the beta globin cluster in 39 individuals heterozygous for beta thalassemia or Hb Lepore confirms the previous findings for homozygous beta thalassemia: the presence of both an (AT)9 T5 sequence configuration at position -540 of the beta globin gene and a (C --> T) variation at -158 of the Ggamma globin gene is associated with elevated expression of HbF. However, at least one defective beta globin gene is required to reveal this association. The best evidence is from the study of individuals heterozygous for Hb Lepore with various levels of HbF. In these individuals it was possible to explore the effect of a single (AT)x Ty motif (the other being absent from the rearranged Lepore chromosome) on HbF expression. The presence of the (AT)9 T5 configuration increases HbF level from a median of 0.515 g/dl observed in (AT)7 T7 subjects, to 1.39 g/dl. We confirm the existence of linkage disequilibrium between ...Continue Reading

References

Apr 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D LabieR L Nagel
Nov 11, 1989·Nucleic Acids Research·P E BergA N Schechter
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
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Jan 1, 1961·Acta Haematologica·H R MARTI, R BUETLER

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Citations

Apr 23, 2020·Hemoglobin·Licínio MancoM Letícia Ribeiro
Feb 9, 2002·American Journal of Hematology·Isabel GonçalvesLeonor Osório-Almeida
Jun 26, 2002·European Journal of Human Genetics : EJHG·Samia Zertal-ZidaniRajagopal Krishnamoorthy
Mar 11, 2004·Hemoglobin·Wafaâ LemsaddekLeonor Osório-Almeida
Jun 11, 2005·European Journal of Haematology·Sanmay BandyopadhyayUma B Dasgupta
Jun 27, 2003·American Journal of Hematology·Wafaa LemsaddekLeonor Osório-Almeida

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