Distribution of thalassemias and associated hemoglobinopathies identified by prenatal diagnosis in Taiwan

Blood Cells, Molecules, and Diseases

Volumn 51, Issue 3, 2013, Pages 138-141

  Peng, Ching Tien ^a,b,c   Liu, Su Ching ^a,b   Peng, Yi Chin ^a   Lin, Tsai Hsiu ^b   Wang, Shiow Jain ^b   Le, Ching Yi ^b   Shih, Mu Chin ^b   Tien, Ni ^b,d   Lu, Jang Jih ^b,e   Lin, Chien Yu ^a,b  

^a CHINA MEDICAL UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d National Chung Hsiung University   (Taiwan)

^e CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Hemoglobinopathy; Molecular lesion; Prenatal diagnosis; Thalassemia

Indexed keywords

ALPHA + BETA THALASSEMIA CARRIER; ALPHA THALASSEMIA CARRIER; ALPHA THALASSEMIA HYDROPS; AMNIOCENTESIS; ARTICLE; BETA THALASSEMIA CARRIER; BETA THALASSEMIA MAJOR; CHORION VILLUS SAMPLING; CODON; CORDOCENTESIS; DIAGNOSTIC TEST; DISEASE CONTROL; FETUS; GENE MUTATION; GENOTYPE; HEMOGLOBINOPATHY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; NON ALPHA THALASSEMIA; NON BETA THALASSEMIA; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING; TAIWAN; THALASSEMIA MAJOR; THALASSEMIA MINOR;

ACRS; AMPLIFICATION-CREATED RESTRICTION SITE; HB; HB CONSTANT SPRING; HB QUONG SZE; HBCS; HBQS; HEMOGLOBIN; HEMOGLOBINOPATHY; MOLECULAR LESION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RFLP; SEA; SOUTHEAST ASIAN; THALASSEMIA; VARIABLE NUMBER OF TANDEM REPEAT; VNTR;

ALPHA-THALASSEMIA; BETA-THALASSEMIA; FEMALE; GENOTYPE; HEMOGLOBIN A; HEMOGLOBINOPATHIES; HUMANS; INFANT, NEWBORN; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; TAIWAN; THALASSEMIA;

EID: 84881026539     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.04.007     Document Type: Article

References (17)

1. Lin H.J., Shih M.C., Peng C.T., et al. Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients. Int. J. Lab. Hematol. 2010, 32:1-7.
2. Liu S.C., Peng C.T., Lin T.H., et al. Molecular lesion frequency of hemoglobin gene disorders in Taiwan. Hemoglobin 2011, 35:228-236.
3. Ko T.M., Xu X. Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese. J. Formos. Med. Assoc. 1998, 97:5-15. (Review).
4. Liu Y.T., Old J.M., Miles K., et al. Rapid detection of alpha-thalassemia deletions and alpha-globin gene triplication by multiplex PCRs. Br. J. Haematol. 2000, 108:295-299.
5. Chang J.G., Lee L.S., Lin C.P., et al. Rapid diagnosis of alpha-thalassemia-1 of Southern Asia type and hydrops fetalis by polymerase chain reaction. Blood 1991, 78:853-854.
6. Chang J.G., Chen P.H., Chiou S.S., et al. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 1992, 80:2092-2096.
7. Chiou S.S., Liu T.C., Tseng W.P., et al. Prenatal and molecular diagnosis of beta-thalassemia major in Taiwan by naturally and amplified created restriction sites. Int. J. Hematol. 1993, 59:1-8.
8. Peng C.T., Liu S.C., Chiou S.S., et al. Molecular characterization of deletional forms of beta-thalassemia in Taiwan. Ann. Hematol. 2003, 82:33-36.
9. Chang J.G., Yang T.Y., Perng L.I., et al. A G→A substitution at codon 7 of the beta-globin chain creates an MboII cutting site. Hemoglobin 1999, 23:197-199.
10. Chang J.G., Liu T.C., Perng L.I., et al. Rapid molecular characterization of Hb H disease in Chinese by polymerase chain reaction. Ann. Hematol. 1994, 68:33-37.
11. Kanavakis E., Traeger-Synodinos J., Vrettou C., et al. Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods. Mol. Hum. Reprod. 1997, 3:523-528.
12. Rodriguez S., Gaunt T.R., Day I.N. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am. J. Epidemiol. 2009, 169(4):505-514.
13. Nielsen D.M., Ehm M.G., Weir B.S. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am. J. Hum. Genet. 1998 Nov, 63(5):1531-1540.
14. Chen T.P., Liu T.C., Chang C.S., et al. PCR-based analysis of alpha-thalassemia in Southern Taiwan. Int. J. Hematol. 2002, 75:277-280.
15. Ko T.M., Tseng L.H., Cheng T.A., et al. Prevalence and molecular studies of thalassemia in five aboriginal groups in Taiwan. J Formos Med Assoc 1994 May, 93(5):379-382.
16. Jin F., Saitou N., Ishida T., et al. Population genetic studies on nine aboriginal ethnic groups of Taiwan. I. Red cell enzyme systems. Anthropol Sci. 1999, 107:229-246.
17. Peng C.T., Chang J.S., Wang L.Y., et al. Update on thalassemia treatment in Taiwan, including bone marrow transplantation, chelation therapy, and cardiomyopathy treatment effects. Hemoglobin 2009, 33:304-311.