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Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand.
Blood Cells Mol Dis. 2011 Aug 15; 47(2):120-4.BC

Abstract

In order to update the molecular basis of β-thalassemia and describe hematological features among different mutations and the concurrent of α- and β-thalassemias, 849 unrelated β-thalassemia heterozygotes recruited in northeast Thailand during a prevention and control program were studied. β- and α-thalassemia mutations were investigated using the polymerase chain reaction (PCR)-based technologies and hematological parameters were recorded using standard methods. Seventeen different mutations including both β(0)- and β(+) -thalassemias were identified. Eight of these 17 β-thalassemia alleles accounted for 97.4%, others were found at lower frequencies (<1.0%). Of the 849 cases, 626 were investigated for common α-thalassemia mutations and 155 (24.8%) were found to be co-inherited with different forms of α-thalassemia. Comparison of the hematological parameters among different β-thalassemia mutations revealed an increasing trend of MCV and MCH in a group of heterozygous states for the 3.4kb deletion and the A-G substitution at nucleotide (NT) -28. Hb A(2) and Hb F levels in individuals with the 3.4kb deletion were significantly higher than those with other mutations. Interaction of each β-thalassemia mutation with α-thalassemia did not affect the diagnostic ranges of Hb A(2) and Hb F, though the significantly increased MCV and MCH was noted. These findings underline the heterogeneity of β-thalassemia and the importance of hematological and molecular analyses of both α-and β-thalassemias in the diagnosis and genetic counseling of the couples at-risk of having babies with severe thalassemia diseases in the region.

Authors+Show Affiliations

Biomedical Science Program, Graduate School, Khon Kaen University, Thailand.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21664157

Citation

Yamsri, Supawadee, et al. "Genotype and Phenotype Characterizations in a Large Cohort of Β-thalassemia Heterozygote With Different Forms of Α-thalassemia in Northeast Thailand." Blood Cells, Molecules & Diseases, vol. 47, no. 2, 2011, pp. 120-4.
Yamsri S, Sanchaisuriya K, Fucharoen G, et al. Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand. Blood Cells Mol Dis. 2011;47(2):120-4.
Yamsri, S., Sanchaisuriya, K., Fucharoen, G., Sae-Ung, N., & Fucharoen, S. (2011). Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand. Blood Cells, Molecules & Diseases, 47(2), 120-4. https://doi.org/10.1016/j.bcmd.2011.05.003
Yamsri S, et al. Genotype and Phenotype Characterizations in a Large Cohort of Β-thalassemia Heterozygote With Different Forms of Α-thalassemia in Northeast Thailand. Blood Cells Mol Dis. 2011 Aug 15;47(2):120-4. PubMed PMID: 21664157.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand. AU - Yamsri,Supawadee, AU - Sanchaisuriya,Kanokwan, AU - Fucharoen,Goonnapa, AU - Sae-Ung,Nattaya, AU - Fucharoen,Supan, Y1 - 2011/06/12/ PY - 2011/04/29/received PY - 2011/05/11/accepted PY - 2011/6/14/entrez PY - 2011/6/15/pubmed PY - 2012/1/6/medline SP - 120 EP - 4 JF - Blood cells, molecules & diseases JO - Blood Cells Mol. Dis. VL - 47 IS - 2 N2 - In order to update the molecular basis of β-thalassemia and describe hematological features among different mutations and the concurrent of α- and β-thalassemias, 849 unrelated β-thalassemia heterozygotes recruited in northeast Thailand during a prevention and control program were studied. β- and α-thalassemia mutations were investigated using the polymerase chain reaction (PCR)-based technologies and hematological parameters were recorded using standard methods. Seventeen different mutations including both β(0)- and β(+) -thalassemias were identified. Eight of these 17 β-thalassemia alleles accounted for 97.4%, others were found at lower frequencies (<1.0%). Of the 849 cases, 626 were investigated for common α-thalassemia mutations and 155 (24.8%) were found to be co-inherited with different forms of α-thalassemia. Comparison of the hematological parameters among different β-thalassemia mutations revealed an increasing trend of MCV and MCH in a group of heterozygous states for the 3.4kb deletion and the A-G substitution at nucleotide (NT) -28. Hb A(2) and Hb F levels in individuals with the 3.4kb deletion were significantly higher than those with other mutations. Interaction of each β-thalassemia mutation with α-thalassemia did not affect the diagnostic ranges of Hb A(2) and Hb F, though the significantly increased MCV and MCH was noted. These findings underline the heterogeneity of β-thalassemia and the importance of hematological and molecular analyses of both α-and β-thalassemias in the diagnosis and genetic counseling of the couples at-risk of having babies with severe thalassemia diseases in the region. SN - 1096-0961 UR - https://www.unboundmedicine.com/medline/citation/21664157/Genotype_and_phenotype_characterizations_in_a_large_cohort_of_β_thalassemia_heterozygote_with_different_forms_of_α_thalassemia_in_northeast_Thailand_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1079-9796(11)00107-0 DB - PRIME DP - Unbound Medicine ER -