Is the Poly A (T>C) Mutation a Causative Factor For Misdiagnosis in Second Trimester Prenatal Diagnosis of β-Thalassemia by Fetal Blood Analysis on High Performance Liquid Chromatography?

REFERENCES

• Weatherall DJ, Clegg JB. The molecular pathology of the thalassaemias. In: Weatherall DJ, Clegg JB, Eds. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001:133–191.
   Google Scholar
• Sukumaran PK. Abnormal haemoglobins in India. In: Sen NN, Basu AK, Chatterjee JB, Eds. Trends in Haematology: J.B. Chatterjea Momorial Volume. 1975:241–250.
   Google Scholar
• Agarwal MB. The burden of haemoglobinopathies in India – Time to wake up? J Assoc Phys India. 2005;53 (Dec.):1017–1018.
   PubMedGoogle Scholar
• Madan N, Sharma S, Sood S, Colah R, Bhatia H. Frequency of β thalassemia trait and other hemoglobinopathies in northern and western India. Indian J Hum Genet. 2010;16(1):16–25.
   PubMedGoogle Scholar
• Weatherall DJ, Clegg JB. Avoidance and population control. In: Weathrtall DJ, Clegg JB, Eds. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001:597–629.
   Google Scholar
• Wadia MR, Phanasgaokar SP, Nadkarni AH, . Usefulness of automated chromatography for rapid fetal blood analysis for second trimester prenatal diagnosis of β-thalassemia. Prenat Diagn. 2002;22(2):153–157.
   PubMed Web of Science ®Google Scholar
• Sanguansermsri T, Thanarattanakorn P, Steger HF, . Prenatal diagnosis of β-thalassemia major by high performance liquid chromatography analysis of hemoglobins in fetal blood samples. Hemoglobin. 2001;25(1):19–27.
   PubMed Web of Science ®Google Scholar
• Colah RB, Gorakshakar AC, Lu CY, . Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes. Ind J Hematol Blood Transf. 1997;15(1):10–13.
   Google Scholar
• Old JM. DNA based diagnosis of the hemoglobin disorders, In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, Eds. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge: Cambridge University Press. 2001:941–948.
   Google Scholar
• Kleihauer E, Braun H, Betke K. Demonstration of foetal haemoglobin in erythrocytes by elution. Klin Wochenschr. 1957;35(12):637–638.
   PubMedGoogle Scholar
• Rao VB, Natrajan PG, Lulla CP, Bandodkar SB. Rapid mid-trimester prenatal diagnosis of β-thalassaemia and other haemoglobinopathies using a non-radioactive anion exchange HPLC technique—an Indian experience. Prenat Diagn. 1997;17(8):725–731.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Winichagoon P, Wisedpanichkij R, . Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem. 1998;44(4):740–748.
   PubMed Web of Science ®Google Scholar
• Winichagoon P, Sriphanich R, Sea-Ngow B, . Application of automated HPLC in prenatal diagnosis of thalassemia. Lab Hematol. 2002;8(2):29–35.
   Google Scholar
• Panigrahi I, Ahmed RP, Kannan M, Kabra M, Deka D, Saxena R. Cord blood analysis for prenatal diagnosis of thalassemia major and hemophilia A. Indian Pediatr. 2005;42(6):577–581.
   PubMedGoogle Scholar
• Li D, Liao C, Li J, . Prenatal diagnosis of β-thalassemia in Southern China. Eur J Obstet Gynecol Reprod Biol. 2006;128(1-2):81–85.
   PubMed Web of Science ®Google Scholar
• Colah RB, Surve P, Sawant P, . HPLC Studies in hemoglobinopathies. Indian J Pediatr. 2007;74(7):657–662.
   PubMed Web of Science ®Google Scholar
• Rao S, Saxena R, Deka D, Kabra M. Use of Hb A estimation by CE-HPLC for prenatal diagnosis of β-thalassemia; experience from a tertiary care centre in north India: a brief report. Hematology. 2009;14(2):122–124.
   PubMed Web of Science ®Google Scholar
• Srivorakun H, Fucharoen G, Sae-Ung N, Sanchaisuriya K, Ratanasiri T, Fucharoen S. Analysis of fetal blood using capillary electrophoresis system: a simple method for prenatal diagnosis of severe thalassemia diseases. Eur J Haematol. 2009;83(1):57–65.
   PubMed Web of Science ®Google Scholar
• Sinha S, Black ML, Agarwal S, . Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J. 2009;3(1-4):51–62.
   PubMedGoogle Scholar
• Gonzalez-Redondo JM, Stoming TA, Kutlar A, . A C→T substitution at nt −101 in a conserved DNA sequence of the promotor region of the β-globin gene is associated with “silent” β-thalassemia. Blood. 1989;73(6):1705–1711.
   PubMed Web of Science ®Google Scholar
• Orkin SH, Antonarakis SE, Kazazian HH Jr. Base substitution at position −88 in a β-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem. 1984;259(14):8679–8681.
   Google Scholar
• Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol. 1988;70(2):225–231.
   PubMed Web of Science ®Google Scholar
• Treisman R, Orkin SH, Maniatis T. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature. 1983;302(5909):591–596.
   PubMed Web of Science ®Google Scholar
• Meloni A, Rosatelli MC, Faà V, . Promoter mutations producing mild β-thalassaemia in the Italian population. Br J Haematol. 1992;80(2):222–226.
   PubMed Web of Science ®Google Scholar
• Kulozik AE, Bellan-Koch A, Bail S, Kohne E, Kleihauer E. Thalassemia intermedia: moderate reduction of β globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. Blood. 1991;77(9):2054–2058.
   PubMed Web of Science ®Google Scholar
• Coleman MB, Steinberg MH, Harrell AH, Plonczynski MW, Walker AM, Adams JG 3rd. The −87 (C→A) β+-thalassemia mutation in a Black family. Hemoglobin. 1992;16(5):399–401.
   PubMed Web of Science ®Google Scholar
• Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH Jr. Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature. 1987;330(6146):384–386.
   PubMed Web of Science ®Google Scholar
• Ma SK, Chan AY, Ha SY, Chang GCF, Chan LC. Two novel βthalassemia allele in Chinese: IVS II-2 (−C) β0 mutation and NT +8 (C→T) silent β+ mutation. Blood. 1999; 94(Suppl 1):34b.
   Google Scholar
• Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis GM, Gibbs R. A novel β-thalassaemia mutation in the 5′ untranslated region of the β-globin gene. Br J Haematol. 1994;88(2):307–310.
   PubMed Web of Science ®Google Scholar
• Oner R, Agarwal S, Dimovski AJ, . The G→A mutation at position +22 3′ to the Cap site of the β-globin gene as a possible cause for a β-thalassemia. Hemoglobin. 1991;15(1-2):67–76.
   PubMed Web of Science ®Google Scholar
• Cai SP, Eng B, Francombe WH, . Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of the β-globin gene. Blood. 1992;79(5):1342–1346.
   PubMed Web of Science ®Google Scholar
• Ho PJ, Rochette J, Fisher CA, . Moderate reduction of β-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families. Blood. 1996;87(3):1170–1178.
   PubMed Web of Science ®Google Scholar
• Chehab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW. The molecular basis of β-thalassemia in Lebanon: application to prenatal diagnosis. Blood. 1987;69(4):1141–1145.
   PubMed Web of Science ®Google Scholar
• Murru S, Loudianos G, Deiana M, . Molecular characterization of β-thalassemia intermedia in patients of Italian descent and identification of three novel β-thalassemia mutations. Blood. 1991;77(6):1342–1347.
   PubMed Web of Science ®Google Scholar
• Rosatelli MC, Pischedda A, Meloni A, . Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype. Br J Haematol. 1994;88(3):562–565.
   PubMed Web of Science ®Google Scholar
• Yang KG, Kutlar F, George E, . Molecular characterization of β-globin gene mutations in Malay patients with Hb E-β-thalassaemia and thalassaemia major. Br J Haematol. 1989;72(1):73–80.
   PubMed Web of Science ®Google Scholar
• Thein SL, Winichagoon P, Hesketh C, . The molecular basis of β-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet. 1990;47(3):369–375.
   PubMed Web of Science ®Google Scholar
• Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW. “Silent” nucleotide substitution in a β+-thalassemia globin gene activates splice site in coding sequence RNA. Proc Natl Acad Sci USA. 1983;80(8):2318–2322.
   PubMed Web of Science ®Google Scholar
• Hattori Y, Yamane A, Yamashiro Y, . Characterization of β-thalassemia mutations among the Japanese. Hemoglobin. 1989;13(7-8):657–670.
   PubMed Web of Science ®Google Scholar
• Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH Jr. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human β-globin gene. EMBO J. 1985;4(2):453–456.
   PubMed Web of Science ®Google Scholar
• Jankovic L, Efremov GD, Petkov G, . Two novel polyadenylation mutations leading to β+thalassaemia. Br J Haematol. 1990;75(1):122–126.
   PubMedGoogle Scholar
• Rund D, Cohen T, Filon D, . Evolution of a genetic disease in an ethnic isolate: β-thalassemia in the Jews of Kurdistan. Proc Natl Acad Sci USA. 1991;88(1):310–314.
   PubMed Web of Science ®Google Scholar