α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [– –^SEA (Southeast Asian)] Deletion in Thailand

References

• Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
   PubMed Web of Science ®Google Scholar
• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(D1):D1063–D1069.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin. 1987;11(1):65–88.
   PubMed Web of Science ®Google Scholar
• Srivorakun H, Singha K, Fucharoen G, et al. A large cohort of hemoglobin variants in Thailand: molecular epidemiological study and diagnostic consideration. PLoS One. 2014;9(9):e108365.
   PubMed Web of Science ®Google Scholar
• Panyasai S, Fucharoen G, Fucharoen S. Hemoglobin variants in Northern Thailand: prevalence, heterogeneity and molecular characteristics. Genet Test Mol Biomarkers. 2016;20(1):37–43.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Fucharoen G. Common abnormal hemoglobins found in Thailand and laboratory diagnostics. J Med Tech Phy Ther. 2010;22(2):103–117. [in Thai].
   Google Scholar
• Svasti J, Srisomsap C, Winichagoon P, et al. Detection and structural analysis of abnormal hemoglobins found in Thailand. Southeast Asian J Trop Med Public Health. 1999;30(Suppl 2):88–93.
   PubMedGoogle Scholar
• Saechan V, Nopparatana C, Nopparatana C, et al. Molecular basis and hematological features of hemoglobin variants in Southern Thailand. Int J Hematol. 2010;92(3):445–450.
   PubMed Web of Science ®Google Scholar
• Panyasai S, Permsripong N, Jaiping K, et al. Hematological and molecular characterization of Hb J-Buda [α61(E10)Lys→Asn, AAG>AAT. Indian J Hematol Blood Transfus. 2016;32(Suppl S1):311–314.
   PubMedGoogle Scholar
• Panyasai S, Pornprasert S. Hematological characterizations and molecular diagnostic aspects of Hb Wiangpapao [α44(CE2)Pro→Ser (α1), CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai Woman. Hemoglobin. 2017;41(2):73–76.
   PubMed Web of Science ®Google Scholar
• Srivorakun H, Singha K, Fucharoen G, et al. Novel interactions of two α-Hb variants with SEA deletion α0-thalassemia: hematological and molecular analyses. Hematology. 2018;23(3):187–191.
   PubMed Web of Science ®Google Scholar
• Uaprasert N, Settapiboon R, Amornsiriwat S, et al. The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations. Int J Hematol. 2017;105(6):819–8127.
   PubMed Web of Science ®Google Scholar
• Panyasai S, Wongruangsri S, Pornprasert S. Severe anemia associated with α0-thalassemia/Hb J-Buda [α61(E10) Lys→Asn, AAG>AAT] coinheritance in a Thai girl: a case report. Southeast Asian J Trop Med Public Health. 2018;49(5):854–858.
   Web of Science ®Google Scholar
• Singha K, Srivorakun H, Fucharoen G, et al. Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α0-thalassemia: molecular and hematological features and differential diagnosis. Hemoglobin. 2013;37(1):37–47.
   PubMed Web of Science ®Google Scholar
• Nittayaboon K, Nopparatana C. Molecular characterization of Hb H disease in southern Thailand. Int J Hematol. 2018;108(4):384–389.
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Tanphaichitr VS, Veerakul G, et al. Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease. Am J Hematol. 2004;75(3):157–163.
   PubMed Web of Science ®Google Scholar
• Marinucci M, Mavilio F, Massa A, et al. A new abnormal human hemoglobin: Hb Prato (α231(B12)Arg leads to Serβ2). Biochim Biophys Acta. 1979;578(2):534–540.
   PubMedGoogle Scholar
• Laosombat V, Viprakasit V, Chotsampancharoen T, et al. Clinical features and molecular analysis in Thai patients with HbH disease. Ann Hematol. 2009;88(12):1185–1192.
   PubMed Web of Science ®Google Scholar
• Fucharoen G, Fucharoen S, Wanhakit C, et al. Molecular basis of α0-thalassemia in northeast of Thailand. Southeast Asian J Trop Med Public Health. 1995;26(Suppl 1):249–251.
   PubMedGoogle Scholar
• Sae-Ung N, Fucharoen G, Sanchaisuriya K, et al. Alpha(0)-thalassemia and related disorders in northeast Thailand: a molecular and hematological characterization. Acta Haematol. 2007;117(2):78–82.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Sanchaisuriya K, Fucharoen G, et al. Interaction of Hemoglobin E and several forms of alpha-thalassemia in Cambodian families. Haematologica. 2003;88(10):1092–1098.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Fucharoen G, Sanchaisuriya K, et al. Molecular analysis of a Thai beta-thalassaemia heterozygote with normal haemoglobin A2 level: implication for population screening. Ann Clin Biochem. 2002;39(Pt 1):44–49.
   PubMed Web of Science ®Google Scholar
• Ruengdit C, Panyasai S, Kunyanone N, et al. Characterization and identification of Hb Bart's hydrops fetalis caused by a compound heterozygous mutation -SEA /-CR , a novel α0-thalassemia deletion. Int J Lab Hematol. 2020;42(3):e116–e120.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Singsanan S, Sanchaisuriya K, et al. Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients. Clin Lab Haematol. 2005;27(3):184–189.
   PubMedGoogle Scholar
• Panyasai S, Pornprasert S. Co-inheritance of Hb J-Kaohsiung [β59(E3) AAG>ACG, Lys→Thr] and HbE [β26(B8) GAG>AAG, Glu→Lys] in a Thai Woman. Indian J Hematol Blood Transfus. 2017;33(4):619–620.
   PubMed Web of Science ®Google Scholar
• Panyasai S, Permsripong N, Pornprasert S. Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai Woman. J Med Assoc Thai. 2018;101(2):275–278.
   Google Scholar
• Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of human alpha globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275–281.
   PubMed Web of Science ®Google Scholar
• Singsanan S, Fucharoen G, Savongsy O, et al. Molecular characterization and origins of Hb Constant Spring and Hb Paksé in Southeast Asian populations. Ann Hematol. 2007;86(9):665–669.
   PubMed Web of Science ®Google Scholar
• Miles KL, Norwich JT, Martinson JJ, et al. Polymerase chain reaction protocols for alpha globin haplotype polymorphisms. Br J Haematol. 2001;113(3):694–698.
   PubMed Web of Science ®Google Scholar
• De Marco EV, Crescibene L, Pasqua A, et al. Hb Prato [α31(B12)Arg. Hemoglobin. 1992;16(4):275–279.
   PubMed Web of Science ®Google Scholar
• Shih MC, Peng CT, Chang JY, et al. Hb Prato [α31(B12)Arg→ Ser (α2)] and α-thalassemia in a Taiwanese. Hemoglobin. 2003;27(1):45–47.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Changtrakun Y, Ratanasiri T, et al. Complex interaction of Hb Hekinan [α27(B8) Glu→Asp] and Hb E [β26(B8) Glu→Lys] with a deletional α-thalassemia 1 in a Thai family. Eur J Haematol. 2003;70(5):304–309.
   PubMed Web of Science ®Google Scholar
• Ngiwsara L, Srisomsap C, Winichagoon P, et al. Two cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→Asp (α1)] and α-thalassemia in Thailand. Hemoglobin. 2004;28(2):145–150.
   PubMed Web of Science ®Google Scholar
• Higgs DR, Vickers MA, Wilkie AOM, et al. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73(5):1081–1104.
   PubMed Web of Science ®Google Scholar
• Huisman THJ, Schroeder WA, Jones RT. Alteration in the properties of human Hemoglobin A by variation in structure: a correlation of structure and function. CRC Crit Rev Clin Lab Sci. 1970;1(3):471–472.
   PubMedGoogle Scholar
• Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program. 2009;2009(1):26–34.
   Google Scholar
• Singsanan S, Karnpean R, Fucharoen G, et al. Hemoglobin Q-Thailand related disorders: origin, molecular, hematological and diagnostic aspects. Blood Cells Mol Dis. 2010;45(3):210–214.
   PubMed Web of Science ®Google Scholar