Clinical and molecular characterization of βS and Gγ(Aγδβ)0-thalassemia in eastern India

Hemoglobin

Volumn 34, Issue 6, 2010, Pages 604-609

  Patel, Dilip Kumar ^a   Patel, Madhumita ^b   Mashon, Ranjeet Singh ^a   Patel, Siris ^a   Dash, Preetinanda Manaswini ^a   Das, Bhabani Shankar ^a  

^a VSS Medical College & Hospital   (India)

^b SAMBALPUR UNIVERSITY   (India)

Author keywords

G (A )0 Thalassemia G (A ) 0 thal; Hb F; Hereditary persistence of fetal hemoglobin (HPFH); India; Sickle cell disease

Indexed keywords

HEMOGLOBIN F; HEMOGLOBIN S;

ARTICLE; CLINICAL ASSESSMENT; CONCENTRATION (PARAMETERS); FAMILY; FEMALE; GENE DELETION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEMOGLOBINOPATHY; HETEROZYGOTE; HUMAN; INDIA; IRON DEFICIENCY ANEMIA; MAJOR CLINICAL STUDY; MALE; MICROCYTIC ANEMIA; SCREENING; SICKLE CELL; THALASSEMIA;

ADOLESCENT; ANEMIA, SICKLE CELL; BETA-THALASSEMIA; CHILD; DELTA-THALASSEMIA; FEMALE; FETAL HEMOGLOBIN; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; INDIA; MALE; MUTATION; YOUNG ADULT;

EID: 79952178468     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.526890     Document Type: Article

References (16)

1. Steinberg MH. Predicting clinical severity in sickle cell anaemia. Br J Haematol. 2005;129(4):465-481. (Pubitemid 40769896)
2. Weatherall DJ, Clegg JB, Eds. Hereditary persistence of fetal hemoglobin. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001:450-483.
3. Mashon RS, Dash PM, Khalko J, et al. Higher fetal hemoglobin concentration in patients with sickle cell disease in eastern India reduces frequency of painful crisis. Eur J Haematol. 2009;83(4):383-384.
4. S globin haplotypes in an Indian population with sickle cell disease. Blood. 1987;69(6):1742-1746.
5. Weatherall DJ, Clegg JB, Eds. The β and δβ thalassemias in association with structural hemoglobin variants. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001:393-449.
6. Sergeant GR, Sergeant BE. Homozygous sickle cell disease. Sickle Cell Disease, 3rd ed. Oxford: Oxford University Press. 2001:429-444.
7. Wu Y, Ugozzoli L, Pal BK, Wallace RB. Allele-specific enzymatic amplification of β-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad. Sci. 1989;86(8):2757-2760.
8. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 1994;83(6):1673-1682. (Pubitemid 24081585)
9. S gene in western India. Hemoglobin. 2004;28(2):157-161.
10. 0- thalassemia/Hb E in Thai patients. Am J Hematol. 2002;71(2):109-113.
11. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1):250-251.
12. Kleihauer E, Braun H, Betke K. [Demonstration of fetal hemoglobin in erythrocytes of a blood smear.] German. Klin Wochenschr. 1957;35(12):367-368.
13. 0-HPFH conditions in combination with β-thalassemia and Hb S. Am J Hematol. 1977;3(1):1-14.
14. 0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA. Br J Haematol. 1985;59(2):343-356.
15. 0 thalassemia. Nucleic Acids Res 1981;9(24):6813-6825.
16. Nadkarni A, Wadia M, Gorakshakar A, Kiyama R, Colah RB, Mohanty D. Molecular characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. Hemoglobin. 2008;32(5):425-433.