메뉴 건너뛰기




Volumn 34, Issue 4, 2010, Pages 394-401

Hydrops fetalis associated with homozygosity for Hb Adana [α59(E8)Gly→Asp (α2)]

Author keywords

Thalassemia ( thal); Hb Adana 59(E8)Gly Asp ( 2) ; Hydrops fetalis; Molecular diagnosis

Indexed keywords

HEMOGLOBIN ADANA; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

EID: 77954856578     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.493405     Document Type: Article
Times cited : (23)

References (21)
  • 1
    • 0032055871 scopus 로고    scopus 로고
    • Hydrops fetalis caused by β-thalassemia: An emerging health care problem
    • Chui DHK, Waye JS. Hydrops fetalis caused by β-thalassemia: an emerging health care problem. Blood. 1998;91(7):2213-2222.
    • (1998) Blood , vol.91 , Issue.7 , pp. 2213-2222
    • Dhk, C.1    Waye, J.S.2
  • 2
    • 0004912639 scopus 로고
    • αchain thalassemia and hydrops fetalis in Malaya, report of five cases
    • Lie-Injo LE. αchain thalassemia and hydrops fetalis in Malaya, report of five cases. Blood. 1962;20(5):581-590.
    • (1962) Blood , vol.20 , Issue.5 , pp. 581-590
    • Lie-Injo, L.E.1
  • 3
    • 0004910677 scopus 로고
    • Hydrops foetalis with a fast-moving haemoglobin
    • Lie-Injo LE, Hie JB. Hydrops foetalis with a fast-moving haemoglobin. Br Med J. 1960;2(5213):1649-1650.
    • (1960) Br Med J , vol.2 , Issue.5213 , pp. 1649-1650
    • Lie-Injo, L.E.1    Hie, J.B.2
  • 4
    • 0027377188 scopus 로고
    • Hb Adana or α259(E8)Gly→Aspα2, a severely unstable α1- globin variant, observed in combination with the -(α)20.5 kb α-thal-1 deletion in two Turkish patients
    • Çürük MA, Dimovski AJ, Baysal E, et al. Hb Adana or α259(E8)Gly→Aspα2, a severely unstable α1- globin variant, observed in combination with the -(α)20.5 kb α-thal-1 deletion in two Turkish patients. Am J Hematol. 1993;44(4):270-275.
    • (1993) Am J Hematol , vol.44 , Issue.4 , pp. 270-275
    • Ma, Ç.1    Dimovski, A.J.2    Baysal, E.3
  • 5
    • 0032707713 scopus 로고    scopus 로고
    • Interaction of an α+-thalassemia deletion with either a highly unstable α-globin variant (α2 codon 59 GGC→GAC) or a nondeletional β-thalassemia mutation (AATAAA→AATAAG): Comparison of phenotypes illustrating "dominant" β-thalassemia
    • Traeger-Synodinos J, Metaxotou-Mavrommati A, Karagiorga M, et al. Interaction of an α+-thalassemia deletion with either a highly unstable α-globin variant (α2, codon 59, GGC→GAC) or a nondeletional β-thalassemia mutation (AATAAA→AATAAG): comparison of phenotypes illustrating "dominant" β-thalassemia. Hemoglobin. 1999;23(4):325-337.
    • (1999) Hemoglobin , vol.23 , Issue.4 , pp. 325-337
    • Traeger-Synodinos, J.1    Metaxotou-Mavrommati, A.2    Karagiorga, M.3
  • 8
    • 3042871056 scopus 로고
    • Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: Application to the apolipoprotein B 3'hypervariable region
    • Boerwinkle E, Xiong W, Fourest E, Chan L. Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3'hypervariable region. Proc Natl Acad Sci USA. 1989;86(1):212-216.
    • (1989) Proc Natl Acad Sci USA , vol.86 , Issue.1 , pp. 212-216
    • Boerwinkle, E.1    Xiong, W.2    Fourest, E.3    Chan, L.4
  • 9
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
    • (1988) Nucleic Acids Res , vol.16 , Issue.3 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 10
    • 0034091983 scopus 로고    scopus 로고
    • Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions
    • Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295-299.
    • (2000) Br J Haematol , vol.108 , Issue.2 , pp. 295-299
    • Liu, Y.T.1    Old, J.M.2    Miles, K.3    Fisher, C.A.4    Weatherall, D.J.5    Clegg, J.B.6
  • 11
    • 0028228838 scopus 로고
    • A simplified procedure for sequencing amplified DNA containing the α2- or α1-globin gene
    • Molchanova TP, Pobedimskaya DD, Postnikov YuV. A simplified procedure for sequencing amplified DNA containing the α2- or α1-globin gene. Hemoglobin. 1994;18(3):251-255.
    • (1994) Hemoglobin , vol.18 , Issue.3 , pp. 251-255
    • Molchanova, T.P.1    Pobedimskaya, D.D.2    Yuv, P.3
  • 12
    • 4544371125 scopus 로고    scopus 로고
    • An β-thalassemia phenotype in a Dutch Hindustani caused by a new point mutation that creates an alternative splice donor site in the first exon of the α2-globin gene
    • Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC. An β-thalassemia phenotype in a Dutch Hindustani caused by a new point mutation that creates an alternative splice donor site in the first exon of the α2-globin gene. Hemoglobin. 2004;28(3):255-259.
    • (2004) Hemoglobin , vol.28 , Issue.3 , pp. 255-259
    • Harteveld, C.L.1    Wijermans, P.W.2    Van Delft, P.3    Rasp, E.4    Haak, H.L.5    Giordano, P.C.6
  • 13
    • 14444283108 scopus 로고    scopus 로고
    • Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC
    • Fucharoen S, Winichagoon P, Wisedpanichkij R, et al. Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem. 1998;44(4):740-748.
    • (1998) Clin Chem , vol.44 , Issue.4 , pp. 740-748
    • Fucharoen, S.1    Winichagoon, P.2    Wisedpanichkij, R.3
  • 14
    • 0042886064 scopus 로고    scopus 로고
    • αthalassemia in Indonesia: Phenotypes and molecular defects
    • Setianingsih I, Harahap A, Nainggolan IM. αThalassemia in Indonesia: phenotypes and molecular defects. Adv Exp Med Biol. 2003;531:47-56.
    • (2003) Adv Exp Med Biol , vol.531 , pp. 47-56
    • Setianingsih, I.1    Harahap, A.2    Nainggolan, I.M.3
  • 15
    • 0347386389 scopus 로고    scopus 로고
    • Clinical features of the thalassemias
    • Weatherall DJ, Clegg JB. 4th ed. Oxford: Blackwell Science
    • Gibbons R, Higgs DR, Olivieri NF, Wood WG. Clinical features of the thalassemias. In: Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001:484-525.
    • (2001) The Thalassaemia Syndromes , pp. 484-525
    • Gibbons, R.1    Higgs, D.R.2    Olivieri, N.F.3    Wood, W.G.4
  • 17
    • 55449092532 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis of Hb H hydrops fetalis caused by Haemoglobin Adana and the implications to antenatal screening for α- Thalassaemia
    • Henderson S, Pitman M, McCarthy J, Molyneux A, Old J. Molecular prenatal diagnosis of Hb H hydrops fetalis caused by Haemoglobin Adana and the implications to antenatal screening for α- thalassaemia. Prenat Diagn. 2008;28(9):859-861.
    • (2008) Prenat Diagn , vol.28 , Issue.9 , pp. 859-861
    • Henderson, S.1    Pitman, M.2    McCarthy, J.3    Molyneux, A.4    Old, J.5
  • 18
    • 68849097635 scopus 로고    scopus 로고
    • A severe αthalassemia case compound heterozygous for Hb Adana in α1 gene and 20.5 kb double gene deletion
    • Durmaz AA, Akin H, Ekmekci AY, et al. A severe αthalassemia case compound heterozygous for Hb Adana in α1 gene and 20.5 kb double gene deletion. J Pediatr Hematol Oncol. 2009;31(8):592-594.
    • (2009) J Pediatr Hematol Oncol , vol.31 , Issue.8 , pp. 592-594
    • Durmaz, A.A.1    Akin, H.2    Ekmekci, A.Y.3
  • 19
    • 47949117716 scopus 로고    scopus 로고
    • Unstable and thalassemic αchain hemoglobin variants: A cause of Hb H disease and thalassemia intermedia
    • Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic αchain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327-349.
    • (2008) Hemoglobin , vol.32 , Issue.4 , pp. 327-349
    • Wajcman, H.1    Traeger-Synodinos, J.2    Papassotiriou, I.3
  • 20
    • 3042555838 scopus 로고    scopus 로고
    • Hydrops fetalis associated with homozygosity for hemoglobin Taybe (α38/39THR deletion) in newborn triplets
    • Arnon S, Tamary H, Dgany O, et al. Hydrops fetalis associated with homozygosity for hemoglobin Taybe (α38/39THR deletion) in newborn triplets. Am J Hematol. 2004;76(3):263-266.
    • (2004) Am J Hematol , vol.76 , Issue.3 , pp. 263-266
    • Arnon, S.1    Tamary, H.2    Dgany, O.3
  • 21
    • 33845686816 scopus 로고    scopus 로고
    • Anemia and hydrops in a fetus with homozygous Hemoglobin Constant Spring
    • Charoenkwan P, Sirichotiyakul S, Chanprapaph P, et al. Anemia and hydrops in a fetus with homozygous Hemoglobin Constant Spring. J Pediatr Hematol Oncol. 2006;28(12):827-830.
    • (2006) J Pediatr Hematol Oncol , vol.28 , Issue.12 , pp. 827-830
    • Charoenkwan, P.1    Sirichotiyakul, S.2    Chanprapaph, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.