Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing

Annals of Hematology

Volumn 89, Issue 12, 2010, Pages 1215-1221

  Haywood, Anna ^a   Dreau, Helene ^a   Timbs, Adele ^a   Schuh, Anna ^a   Old, John ^a   Henderson, Shirley ^a  

^a CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Alpha thalassaemia; Haemoglobinopathy screening; Prenatal diagnosis; Pyrosequencing

Indexed keywords

HEMOGLOBIN A;

ALPHA THALASSEMIA; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MUTATIONAL ANALYSIS; POLYADENYLATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PYROSEQUENCING; STOP CODON; UNITED KINGDOM;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; BASE SEQUENCE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; GENOTYPE; HUMANS; MUTATION; POLY A; POLYADENYLATION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 78549290626     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-010-1013-2     Document Type: Article

References (30)

1. EP Vichinsky 2005 Changing patterns of thalassemia worldwide Ann N Y Acad Sci 1054 18 24 1:CAS:528:DC%2BD28XotlGqsQ%3D%3D 10.1196/annals.1345.003 16339647 (Pubitemid 43031006)
2. World Health Organisation RbtS (2006) Thalassaemia and other haemoglobinopathies.
3. DH Chui S Fucharoen V Chan 2003 Hemoglobin H disease: not necessarily a benign disorder Blood 101 3 791 800 1:CAS:528:DC%2BD3sXptVeksA%3D%3D 10.1182/blood-2002-07-1975 12393486 (Pubitemid 36139341)
4. T Tongsong K Srisupundit S Luewan 2009 Outcomes of pregnancies affected by hemoglobin H disease Int J Gynaecol Obstet 104 3 206 208 10.1016/j.ijgo.2008. 10.010 19027901
5. V Viprakasit VS Tanphaichitr G Veerakul W Chinchang S Petrarat P Pung-Amritt DR Higgs 2004 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 75 3 157 163 1:CAS:528:DC%2BD2cXislKnt74%3D 10.1002/ajh.10479 14978697 (Pubitemid 38263825)
6. V Chan VW Chan M Tang K Lau D Todd TK Chan 1997 Molecular defects in Hb H hydrops fetalis Br J Haematol 96 2 224 228 1:CAS:528:DyaK2sXhslOgs7c%3D 10.1046/j.1365-2141.1997.d01-2017.x 9029003
7. SA Liebhaber FE Cash SK Ballas 1986 Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis J Biol Chem 261 32 15327 15333 1:CAS:528:DyaL2sXhsVWitA%3D%3D 3771577
8. S Henderson A Timbs J McCarthy A Gallienne M Van Mourik G Masters A May MS Khalil A Schuh J Old 2009 Incidence of haemoglobinopathies in various populations-the impact of immigration Clin Biochem 42 18 1745 1756 10.1016/j.clinbiochem.2009.05.012 19497317
9. S Henderson M Pitman J McCarthy A Molyneux J Old 2008 Molecular prenatal diagnosis of Hb H hydrops fetalis caused by haemoglobin Adana and the implications to antenatal screening for alpha-thalassaemia Prenat Diagn 28 9 859 861 1:CAS:528:DC%2BD1cXht1Kru7jN 10.1002/pd.2045 18615546
10. SC Davies E Cronin M Gill P Greengross M Hickman C Normand 2000 Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research Health Technol Assess 3 4 1 99 i-v
11. DoH (1993) The Report of the Working Party of the Standing Medical Advisory Committee on Sickle Cell, thalassaemia and other haemoglobinopathies. In: Committee CHSCSMA (ed) Stationery office books. HMSO, London
12. M Ronaghi S Karamohamed B Pettersson M Uhlen P Nyren 1996 Real-time DNA sequencing using detection of pyrophosphate release Anal Biochem 242 1 84 89 1:CAS:528:DyaK28XmvVemurY%3D 10.1006/abio.1996.0432 8923969 (Pubitemid 26378519)
13. M Ronaghi E Elahi 2002 Discovery of single nucleotide polymorphisms and mutations by pyrosequencing Comp Funct Genomics 3 1 51 56 1:CAS:528: DC%2BD38XitFSjtbY%3D 10.1002/cfg.132 18628881 (Pubitemid 34187811)
14. J Jelinek Y Oki V Gharibyan C Bueso-Ramos JT Prchal S Verstovsek M Beran E Estey HM Kantarjian JP Issa 2005 JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia Blood 106 10 3370 3373 1:CAS:528:DC%2BD2MXht1ehsb7L 10.1182/blood-2005-05-1800 16037387 (Pubitemid 41609167)
15. CA Garcia A Ahmadian B Gharizadeh J Lundeberg M Ronaghi P Nyren 2000 Mutation detection by pyrosequencing: sequencing of exons 5-8 of the p53 tumor suppressor gene Gene 253 2 249 257 1:CAS:528:DC%2BD3cXlsFSlur4%3D 10.1016/S0378-1119(00)00257-2 10940563 (Pubitemid 30625216)
16. A Ahmadian J Lundeberg P Nyren M Uhlen M Ronaghi 2000 Analysis of the p53 tumor suppressor gene by pyrosequencing Biotechniques 28 1 140-144 146-147 10649785
17. B Modell M Darlison 2008 Global epidemiology of haemoglobin disorders and derived service indicators Bull World Health Organ 86 6 480 487 10.2471/BLT.06.036673 18568278 (Pubitemid 351821761)
18. AS Tan TC Quah PS Low SS Chong 2001 A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia Blood 98 1 250 251 1:CAS:528:DC%2BD3MXkvFSls7Y%3D 10.1182/blood.V98.1.250 11439976
19. JP Schouten CJ McElgunn R Waaijer D Zwijnenburg F Diepvens G Pals 2002 Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Res 30 12 e57 10.1093/nar/gnf056 12060695
20. F Mashayekhi M Ronaghi 2007 Analysis of read length limiting factors in pyrosequencing chemistry Anal Biochem 363 2 275 287 1:CAS:528: DC%2BD2sXjsVWiu7c%3D 10.1016/j.ab.2007.02.002 17343818 (Pubitemid 46428223)
21. S Henderson M Chapple M Rugless C Fisher S Kinsey J Old 2006 Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the alpha2-globin gene polyadenylation signal mutation AATAAA-> AATA Br J Haematol 135 5 743 745 1:CAS:528:DC%2BD2sXitl2ktw%3D%3D 10.1111/j.1365-2141.2006.06362.x 17054428 (Pubitemid 44674090)
22. GT Yuregir K Aksoy MA Curuk N Dikmen YJ Fei E Baysal TH Huisman 1992 Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation Br J Haematol 80 4 527 532 1:STN:280:DyaK383ls1agtQ%3D%3D 10.1111/j.1365-2141.1992.tb04568.x 1581238
23. J Traeger-Synodinos I Papassotiriou M Karagiorga E Premetis E Kanavakis A Stamoulakatou 2002 Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alpha T Saudi alpha): implications for clinical management Br J Haematol 119 1 265 267 1:CAS:528:DC%2BD38XovFGqu7g%3D 10.1046/j.1365-2141.2002.03777.x 12358934 (Pubitemid 35176529)
24. MA Curuk Y Kilinc C Evruke FT Ozgunen K Aksoy GT Yuregir 2001 Prenatal diagnosis of Hb H disease caused by a homozygosity for the alpha2 poly A (AATAAA-> AATAAG) mutation Hemoglobin 25 2 255 258 1:CAS:528: DC%2BD3MXlsVOisrc%3D 10.1081/HEM-100104034 11480787 (Pubitemid 32660546)
25. P Charoenkwan S Sirichotiyakul P Chanprapaph F Tongprasert R Taweephol R Sae-Tung T Sanguansermsri 2006 Anemia and hydrops in a fetus with homozygous hemoglobin constant spring J Pediatr Hematol Oncol 28 12 827 830 1:CAS:528:DC%2BD2sXhtVKqsLY%3D 10.1097/01.mph.0000243662.56432.37 17164653 (Pubitemid 44967679)
26. V Viprakasit VS Tanphaichitr 2002 Compound heterozygosity for alpha0-thalassemia (- -THAI) and Hb constant spring causes severe Hb H disease Hemoglobin 26 2 155 162 1:CAS:528:DC%2BD38XlsFClsLo%3D 10.1081/HEM-120005453 12144058 (Pubitemid 34779264)
27. E Kanavakis J Traeger-Synodinos I Papasotiriou C Vrettou A Metaxotou-Mavromati A Stamoulakatou E Lagona C Kattamis 1996 The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H Br J Haematol 92 2 332 335 1:STN:280:DyaK287ovFynsA%3D%3D 10.1046/j.1365-2141.1996.d01-1487.x 8602995
28. V Viprakasit VS Tanphaichitr P Pung-Amritt S Petrarat L Suwantol C Fisher DR Higgs 2002 Clinical phenotypes and molecular characterization of Hb H-Pakse disease Haematologica 87 2 117 125 1:CAS:528:DC%2BD38XivFCqsL0%3D 11836160
29. C Liao J Li DZ Li 2008 Fetal anemia and hydrops associated with homozygosity for hemoglobin Quong Sze Prenat Diagn 28 9 862 864 1:CAS:528:DC%2BD1cXht1Kru7jO 10.1002/pd.2058 18646238
30. PJ Ho J Rochette DC Rees CA Fisher ER Huehns AM Will SL Thein 1996 Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies Hemoglobin 20 2 103 112 1:CAS:528:DyaK28Xkt1Snurw%3D 10.3109/03630269609027915 8811313