Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia

Fucharoen, 2016, Progress toward the control and management of the thalassemias, Hematol. Oncol. Clin. North Am., 30, 359, 10.1016/j.hoc.2015.12.001 Tongsong, 2013, Effectiveness of the model for prenatal control of severe thalassemia, Prenat. Diagn., 33, 477, 10.1002/pd.4095 Abdel-Messih, 2015, Clinical to molecular screening paradigm for beta-thalassemia carriers, Hemoglobin, 39, 240, 10.3109/03630269.2015.1048808 Ou, 2011, Elevated hemoglobin A2 as a marker for beta-thalassemia trait in pregnant women, Tohoku J. Exp. Med., 223, 223, 10.1620/tjem.223.223 Yang, 2009, Prevalence of elevated hemoglobin A2 measured by the CAPILLARYS system, Am. J. Clin. Pathol., 131, 42, 10.1309/AJCPD0PJGFT0SXMK Alperin, 1977, Hemoglobin A2 levels in health and various hematologic disorders, Am. J. Clin. Pathol., 67, 219, 10.1093/ajcp/67.3.219 Bianco, 1997, Silent thalassemias: genotypes and phenotypes, Haematologica, 82, 269 Denic, 2013, Hemoglobin A2 lowered by iron deficiency and alpha -thalassemia: should screening recommendation for beta-thalassemia change?, ISRN Hematol, 2013, 10.1155/2013/858294 Giambona, 2008, Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia, Haematologica, 93, 1380, 10.3324/haematol.12840 Paglietti, 2016, The Problem of Borderline Hemoglobin A2 levels in the screening for beta-thalassemia carriers in Sardinia, Acta Haematol., 135, 193, 10.1159/000442194 Charoenkwan, 2017, High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand, Int. J. Hematol., 106, 757, 10.1007/s12185-017-2306-1 Sirichotiyakul, 2003, Analysis of beta-thalassemia mutations in northern Thailand using an automated fluorescence DNA sequencing technique, Hemoglobin, 27, 89, 10.1081/HEM-120021541 Bouva, 2006, Known and new delta globin gene mutations and their diagnostic significance, Haematologica, 91, 129 Charoenkwan, 2014, The correlation of alpha-globin gene mutations and the XmnI polymorphism with clinical severity of Hb E/beta-thalassemia, Hemoglobin, 38, 335, 10.3109/03630269.2014.952744 Pagano, 1991, Hemoglobin Neapolis, beta 126(H4)Val—Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features, Blood, 78, 3070, 10.1182/blood.V78.11.3070.3070 Pagano, 2007, Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy, Haematologica, 92, 990, 10.3324/haematol.10970 Yamsri, 2015, A large cohort of beta(+)-thalassemia in Thailand: molecular, hematological and diagnostic considerations, Blood Cells Mol. Dis., 54, 164, 10.1016/j.bcmd.2014.11.008 Viprakasit, 2007, Two independent origins of Hb Dhonburi (Neapolis) [beta 126 (H4) Val→Gly]: an electrophoretically silent hemoglobin variant, Clin. Chim. Acta, 376, 179, 10.1016/j.cca.2006.08.016 Bardakdjian-Michau, 1990, Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val—Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia, Am. J. Hematol., 35, 96, 10.1002/ajh.2830350206 Wong, 1987, Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA, Nature, 330, 384, 10.1038/330384a0 Garewal, 2007, The clinical significance of the spectrum of interactions of CAP+1 (A→C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians, Eur. J. Haematol., 79, 417, 10.1111/j.1600-0609.2007.00958.x Rangan, 2011, beta-Thalassemia mutations in subjects with borderline HbA2 values: a pilot study in North India, Clin. Chem. Lab. Med., 49, 2069, 10.1515/CCLM.2011.696 Liu, 2013, Analysis of delta-globin gene mutations in the Chinese population, Hemoglobin, 37, 85, 10.3109/03630269.2012.747965 Galanello, 1994, Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening, Am. J. Hematol., 46, 79, 10.1002/ajh.2830460204 Galanello, 1998, Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia, Am. J. Hematol., 59, 273, 10.1002/(SICI)1096-8652(199812)59:4<273::AID-AJH2>3.0.CO;2-3 Arshad, 2016, Effect of Iron deficiency on the phenotype of beta-thalassaemia trait, J. Coll. Physicians Surg. Pak., 26, 230 Sharma, 2015, Impact of iron deficiency on hemoglobin A2% in obligate beta-thalassemia heterozygotes, Int. J. Lab. Hematol., 37, 105, 10.1111/ijlh.12246 Amid, 2015, Screening for thalassemia carriers in populations with a high rate of iron deficiency: revisiting the applicability of the Mentzer index and the effect of iron deficiency on Hb A2 levels, Hemoglobin, 39, 141, 10.3109/03630269.2015.1024321 Mohanty, 2014, Interaction of iron deficiency anemia and hemoglobinopathies among college students and pregnant women: a multi center evaluation in India, Hemoglobin, 38, 252, 10.3109/03630269.2014.913517 Verhovsek, 2012, Is HbA2 level a reliable diagnostic measurement for beta-thalassemia trait in people with iron deficiency?, Am. J. Hematol., 87, 114, 10.1002/ajh.22188 Ma, 2000, beta-Thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC→AGC; asn→Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation, Am. J. Hematol., 64, 206, 10.1002/1096-8652(200007)64:3<206::AID-AJH12>3.0.CO;2-# Sanguansermsri, 1990, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene, Hemoglobin, 14, 157, 10.3109/03630269009046957 George, 2013, HbA2 levels in beta-thalassaemia carriers with the Filipino beta0-deletion: are the levels higher than what is found with non-deletional forms of beta0-thalassaemia?, Pathology, 45, 62, 10.1097/PAT.0b013e32835af7c1 Lou, 2014, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals, Blood Cells Mol. Dis., 53, 261, 10.1016/j.bcmd.2014.04.005 Menzel, 2013, HbA2 levels in normal adults are influenced by two distinct genetic mechanisms, Br. J. Haematol., 160, 101, 10.1111/bjh.12084 Tallack, 2013, Three fingers on the switch: Kruppel-like factor 1 regulation of gamma-globin to beta-globin gene switching, Curr. Opin. Hematol., 20, 193, 10.1097/MOH.0b013e32835f59ba Zhou, 2010, KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching, Nat. Genet., 42, 742, 10.1038/ng.637 Perseu, 2011, KLF1 gene mutations cause borderline HbA(2), Blood, 118, 4454, 10.1182/blood-2011-04-345736 Liu, 2014, KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of beta-thalassemia, Blood, 124, 803, 10.1182/blood-2014-03-561779