Co-inheritance of β- And δ-thalassemia compromising prenatal screening in a chinese couple seeking prevention

Fetal Diagnosis and Therapy

Volumn 30, Issue 1, 2011, Pages 73-76

  Li, Jian ^a   Xie, Xing Mei ^a   Zhou, Jian Ying ^a   Li, Dong Zhi ^a  

^a GUANGZHOU MATERNAL AND NEONATAL HOSPITAL   (China)

Author keywords

Thalassemia; Thalassemia; Mutation detection; Prenatal screening

Indexed keywords

DELTA GLOBIN; HEMOGLOBIN A2;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHINESE; DELTA THALASSEMIA; DIAGNOSTIC ERROR; DISEASE ASSOCIATION; DNA DETERMINATION; FALSE NEGATIVE RESULT; FEMALE; FETUS; GENE MUTATION; GLOBIN GENE; HETEROZYGOTE; HUMAN; INHERITANCE; PRENATAL SCREENING; PRIORITY JOURNAL; RISK ASSESSMENT;

ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; DELTA-GLOBINS; DELTA-THALASSEMIA; DIAGNOSTIC ERRORS; FEMALE; HEMOGLOBIN A2; HUMANS; MALE; PRENATAL DIAGNOSIS;

EID: 80051786772     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000321046     Document Type: Article

References (9)

1. Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC: The role of HbA 2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol 2009; 62: 13-17.
2. Bouva MJ, Harteveld CL, van Delft P, Giordano PC: Known and newα-globin gene mutations and their diagnostic significance. Haematologica 2006; 91: 129-132. (Pubitemid 43235396)
3. Li D, Liao C, Li J, Huang Y, Xie X, Wei J, Wu S: Prenatal diagnosis ofα-thalassemia by reverse dot-blot hybridization in southern China. Hemoglobin 2006; 30: 365-370. (Pubitemid 44091798)
4. Pirastu M, Ristaldi MS, Loudianos G, Murru S, Sciarratta GV, Parodi MI, Leone D, Agosti S, Cao A: Molecular analysis of atypicalα-thalassemia heterozygotes. Ann N Y Acad Sci 1990; 612: 90-97.
5. Ohta Y, Yasukawa M, Saito S, Fujita S, Kobayashi Y: Homozygousα- thalassemia in Japan. Hemoglobin 1980; 4: 417-425.
6. Matsuda M, Sakamoto N, Fukumaki Y: Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Blood 1992; 80: 1347-1351.
7. Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC: Occurrence of common and rareα-globin gene defects in two multiethnic populations: Thirteen new mutations and the significance ofα-globin gene defects inα-thalassemia diagnostics. Int J Lab Hematol 2011; 33: 85-91.
8. Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M: Delta-thalassemia in Cyprus. Hemoglobin 2006; 30: 455-462.
9. Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzá M, Maggio A: Analysis ofα-globin gene alleles in the Sicilian population: Identification of five new mutations. Haematologica 2006; 91: 1681-1684. (Pubitemid 46032965)