PMID: 8980256Jan 1, 1997Paper

Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype

American Journal of Hematology
D RundA Oppenheim

Abstract

Molecular analysis was performed on 95 Israeli patients with thalassemia intermedia, representing 60 families of Arab (Moslem and Christian), Jewish, Druze, and Samaritan origin. There was a wide range of phenotypic severity, with baseline hemoglobin levels ranging from 5.5 to 10.7. Eighteen thalassemia mutations were found (29 genotypes), which were subdivided into groups, according to the severity of mutations. A consistently mild phenotype (10 families) was caused by compound heterozygosity for a silent mutation, such as -101 C-T or by coexistence of triplicated alpha-globin genes with thalassemia trait. In 39 thalassemia intermedia families, the genotype which was found was one which led to severe thalassemia intermedia, or, in other families, was associated with thalassemia major. Elevated hemoglobin F ameliorated the disease in some patients with a severe genotype. We did not find a beneficial effect of concurrent alpha-thalassemia in any of the families studied. In 11 families, only one beta-thalassemia allele was identified. One was a dominant thalassemia intermedia allele. Three additional families with heterozygous beta-thalassemia had excess alpha-globin genes (5 or 6 total). In 7 of these heterozygotes, no explanati...Continue Reading

Associated Clinical Trials

References

Jun 1, 1991·Current Opinion in Genetics & Development·A CaoR Galanello
May 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S L TheinD J Weatherall
Jan 11, 1991·Proceedings of the National Academy of Sciences of the United States of America·D RundA Oppenheim
Mar 1, 1987·British Journal of Haematology·S L TheinD J Weatherall
Apr 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D LabieR L Nagel
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1981·Methods in Enzymology·M Goossens, Y Y Kan
Mar 1, 1983·British Journal of Haematology·J S WainscoatD J Weatherall
Dec 1, 1994·Blood Reviews·J RochetteS L Thein
May 1, 1995·Hemoglobin·E Baysal, M F Carver
Sep 1, 1995·American Journal of Hematology·J S WayeN F Olivieri
Mar 1, 1995·British Journal of Haematology·E BaysalT H Huisman

❮ Previous
Next ❯

Citations

Nov 14, 2000·American Journal of Hematology·V Oron-KarniD Rund
Sep 18, 2001·American Journal of Hematology·M F SadiqJ Horst
Aug 17, 2005·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·Adekunle AdekileFerdane Kutlar
Jan 18, 2006·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Sarita Agarwal, Nikhil Moorchung
May 16, 2020·International Journal of Laboratory Hematology·Pallavi MehtaMalay B Mukherjee
Jan 26, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonio Cao, Renzo Galanello
Jul 8, 1999·The New England Journal of Medicine·N F Olivieri
Apr 23, 2015·Hemoglobin·Rawand P ShamoonFrancesca Granata
Nov 6, 2015·American Journal of Hematology·Deborah Rund
Apr 15, 2015·Blood·Sachith MettanandaDouglas R Higgs
Feb 12, 2000·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·D Weatherall
Aug 19, 2003·Indian Journal of Pediatrics·Shubha R Phadke, Savita Agarwal
Mar 4, 2011·International Journal of Hematology·Shu-Yang XieYi-Tao Zeng
Mar 2, 2019·BMC Hematology·Rashail FaraonMahmoud A Srour
Dec 29, 2000·Journal of Pediatric Hematology/oncology·P WinichagoonP Wasi
Jun 7, 2003·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·E M KimuraM F Sonati
Apr 16, 2008·British Journal of Haematology·Nancy F OlivieriDavid J Weatherall
Jan 8, 2014·Journal of Clinical Laboratory Analysis·Sanjay Kumar PandeyRenu Saxena
Jun 29, 2000·Baillière's Clinical Haematology·S L Thein
Jun 29, 2000·Baillière's Clinical Haematology·D J Weatherall

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.