Hb Florida: a novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype

American Journal of Hematology
B I WeinsteinM F Sonati

Abstract

We report here a new frameshift mutation in exon 3 of the beta-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG-->GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. It leads to a beta-chain that is elongated to 156 amino acids [(141)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156)Tyr-COOH]. The resulting hemoglobin, which we named Hb Florida, was not detected in peripheral blood; however, erythroid hyperplasia and dyserythropoiesis with large inclusion bodies on methyl violet staining were observed in bone marrow, suggesting that this is a hyperunstable variant producing a dominant beta-thalassemia phenotype, since the other beta-allele was completely normal.

References

May 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S L TheinD J Weatherall
Aug 1, 1994·American Journal of Hematology·M A CürükA G Rumyantsev
Mar 1, 1997·Hemoglobin·Y OhbaH Ideguchi

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Citations

Nov 28, 2009·Hematology·Inusha PanigrahiKetan Kulkarni
Jun 19, 2013·Pediatric Blood & Cancer·Stacy E CroteauEllis J Neufeld
Oct 15, 2013·International Journal of Laboratory Hematology·E L T ShimautiC R Bonini-Domingos
Oct 27, 2015·Genetics and Molecular Biology·Eliana LitsukoTomimatsu ShimautiClaudia Regina Bonini-Domingos
Jul 17, 2021·International Journal of Laboratory Hematology·Wanying LinJinquan Lao

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