Hematological and molecular analysis of novel and rare β-thalassemia mutations in the Indian population

Hemoglobin

Volumn 33, Issue 1, 2009, Pages 59-65

  Nadkarni, Anita ^a   Gorakshakar, Ajit ^a   Surve, Reema ^a   Sawant, Pratibha ^a   Phanasgaonkar, Supriya ^a   Nair, Sona ^a   Ghosh, Kanjaksha ^a   Colah, Roshan B ^a,b  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^b KEM HOSPITAL   (India)

Author keywords

thalassemia ( thal); Haplotype; India; Novel and rare mutations

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; CHILD; CODON; CONCENTRATION (PARAMETERS); ERYTHROCYTE COUNT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; INDIAN; INFANT; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; POPULATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD;

BETA-GLOBINS; BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HAPLOTYPES; HUMANS; INDIA; LINKAGE (GENETICS); MUTATION;

EID: 60749086262     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802626012     Document Type: Article

References (13)

1. Huisman THJ, Carver MFH, Baysal E. A Syllabus of Thalassemia Mutations (1997). Augusta: The Sickle Cell Anemia Foundation; 1997 (http://globin.cse.psu.edu).
2. Gorakshakar A, Pawar A, Nadkarni A, et al. Potential of denaturing gradient gel electrophoresis for scanning of β-thalassemia mutations in India. Am J Hematol. 1999;61(2):120-125.
3. Agarwal S, Hattori Y, Agarwal SS. Rare β-thalassemia mutation in Asian Indians. Am J Hematol. 2000;65(4):322-323.
4. Varawalla NY, Old JM, Weatherall DJ. Rare β-thalassaemia mutations in Asian Indians. Br J Haematol. 1991;79(4):640-644.
5. Verma IC, Saxena R, Thomas E, Jain PK. Regional distribution of β-thalassemia mutation in India. Hum Genet. 1997;100(1):109-113.
6. Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, ed. The Thalassaemias. Methods in Hematology. vol. 6. Edinburgh: Churchill Livingstone; 1982:74-102.
7. Colah R, Gorakshakar A, Lu C, et al. Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of common Indian thalassemia syndromes. Indian J Haematol & Blood Transf. 1997;15(1):10-13.
8. Vaz FEE, Thakur CB, Banerjee MK, Gangal SG. Distribution of β-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin. 2000;24(3):181-194.
9. Sutton M, Bouhassira E, Nagel R. Polymerase chain reaction amplification applied to the determination of β like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66-69.
10. Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature. 1982;296(5858):627-631.
11. Özçelik H, Basak AN, Tüzman S, Kirdar B, Akar N. A novel deletion in a Turkish β-thalassemia patient detected by DGGE and direct sequencing. Hemoglobin. 1993;17(4):387-391.
12. +-thalassemia mutation in a Black family. Hemoglobin. 1992;16(5):399-401.
13. Fucharoen S, Fucharoen G, Ata K, et al. Molecular characterization and non-radioactive detection of β-thalassemia in Malaysia. Acta Hematol. 1990;84(2):82-88.