Clinical and hematological features of beta(+)-thalassemia (IVS-1 nt 5, G-C mutation) in Thai patients.

Abstract

Seventy-eight patients with IVS-1 nt 5, G-C, which is the common mutation of beta+-thalassemia found in the southern part of Thailand, were studied to determine whether it is possible to predict phenotypic severity from genetic factors. The clinical phenotype of homozygotes for IVS-1 nt 5, G-C and compound heterozygotes for IVS-1 nt 5, G-C and beta(0) - or beta(+)-thalassemia were variable and could not be accurately predicted. The associations between concomittant alpha-thalassemia or Hb CS or the presence of XmnI-Ggamma polymorphism and a mild clinical phenotype are not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.

• Authors: V Laosombat, M Wongchanchailert, B Sattayasevana, A Wiriyasateinkul, S Fucharoen
• Journal: European journal of haematology (Eur J Haematol) Vol. 67 Issue 2 Pg. 100-4 (Aug 2001) ISSN: 0902-4441 [Print] England
• PMID: 11722597 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• Globins
• Hemoglobin Constant Spring
• endodeoxyribonuclease XmnI
• Deoxyribonucleases, Type II Site-Specific

Topics

• Adolescent
• Alternative Splicing
• Child
• DNA Mutational Analysis
• Deoxyribonucleases, Type II Site-Specific
• Female
• Globins (biosynthesis, genetics)
• Hemoglobinopathies (complications, genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Homozygote
• Humans
• Male
• Phenotype
• Point Mutation
• Polymorphism, Restriction Fragment Length
• Severity of Illness Index
• Thailand (epidemiology)
• alpha-Thalassemia (complications, genetics)
• beta-Thalassemia (blood, complications, ethnology, genetics)