Trimodal distribution of HbS levels in sickle heterozygotes - An useful predictor of the α-genotype for population screening

Indian Journal of Medical Research

Volumn 108, Issue DEC., 1998, Pages 285-290

  Mukherjee, Malay B ^a   Surve, Reema ^a   Tamankar, Ashwini ^a   Colah, Roshan ^a,b   Mohanty, Dipika ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

^b KEM HOSPITAL   (India)

Author keywords

genotypes; HbS quantitation thalassaemia

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN S;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; ARTICLE; CHILD; FEMALE; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; SCHOOL CHILD; SCREENING; SICKLE CELL; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; ALPHA-THALASSEMIA; ANEMIA, SICKLE CELL; CHILD; FEMALE; GENETIC SCREENING; GENOTYPE; HEMOGLOBIN, SICKLE; HETEROZYGOTE; HUMANS; INDIA; MALE; MIDDLE AGED; PREDICTIVE VALUE OF TESTS; PREVALENCE;

EID: 0032421411     PISSN: 09715916     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Wells IC, Itano HA. Ratio of sickle-cell anemia hemoglobin to normal hemoglobin in sicklemics. J Biol Chem 1951; 188: 65-74.
2. Levere RD, Lichtman HC, Levine J. Effect of iron-deficiency anaemia on the metabolism of the heterogenic haemoglobins in sickle cell trait. Nature 1964; 202 : 499-501.
3. Weatherall DJ, Clegg JB, Blackson J, McNeil JR. New sickling disorder resulting from interaction of the genes for haemoglobin S and thalassaemia. Br J Haematol 1969; 17 : 517-26.
4. Mukherjee MB, Lu CY, Ducrocq R, Gangakhedkar RR, Colah RB, Kadam MD, et al. Effect of α-thalassemia on sickle-cell anemia linked to the Arab-Indian haplotype in India. Am J Hematol 1997; 55 : 104-9.
5. Abraham EC, Huisman THJ. Differences in affinity of variant β-chains for α chains, a possible explanation for the variation in the percentages of β chain variants in heterozygotes. Haemoglobin 1977; 1 : 861-73.
6. Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, editor. Methods in haematology, The Thalassaemias, London : Churchill-Livingstone, 1983 : 74-102.
7. 3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993; 83 : 105-11.
8. Baysal E, Huisman THJ. Detection of common deletional α-thalassaemia-2 determinants by PCR. Am J Hematol 1994; 46 : 208-13.
9. Dode C, Rochette J, Krishnamoorthy R. Locus assignment of human alpha globin mutations by selective amplification and direct sequencing. Br J Haematol 1990; 76 : 275-81.
10. Brittenham G. Genetic model for observed distributions of proportions of haemoglobin in sickle-cell trait. Nature 1977; 268 : 635-6.
11. Brittenham G, Lozoff B, Harris JW, Sharma VS, Narasimhan S. Sickle cell anaemia and trait in a population of southern India. Am J Haematol 1977; 2 : 25-32.
12. Rao VR, Bhatia HM. Quantitative assessment of HbS in sickle cell heterozygotes among some tribes in Maharashtra. Indian J Med Res 1988; 87 : 257-61.
13. Mukherjee MB, Gangakhedkar RR. Haemoglobin S quantitation in sickle cell heterozygotes among a tribal group of Valsad and scheduled caste population of Nagpur. Indian J Haematol Blood Transf 1994; 12 : 219-24.
14. Dacie JV, Lewis SM. Practical haematology, 7th ed, London: Churchill-Livingstone, 1991 : 227-57.
15. Singer K, Chernoff AI, Singer L. Studies on abnormal haemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood 1951; 6 : 413-28.
16. Elles R, Old JM. Laboratory procedures for DNA analysis, WHO training course in standard techniques and advanced methodologies for control of hereditary anaemias. Herakleon, Crete. 1987 : 1-5.
17. Balgir RS, Sharma SK. Distribution of sickle cell haemoglobin in India. Indian J Haematol 1988; 6 : 1-14.
18. Serjeant GR. Homozygous sickle cell disease. In : Sickle cell disease, 2nd ed. Oxford : Oxford University Press, 1985 : 289-94.
19. Embury SH, Dozy AM, Miller J, Davis JR, Kleman KM, Preisler H, et al. Concurrent sickle-cell anemia and α-thalassaemia. Effect on severity of anemia. N Engl J Med 1982; 306 : 270-4.
20. Kar BC, Satapathy RK, Kulozik AE, Kulozik N, Sirr S, Serjeant BE, et al. Sickle cell disease in Orissa state, India. Lancet 1986; ii : 1198-201.
21. Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ. The molecular basis of alpha thalassaemia in India. Its interaction with the sickle cell gene. Blood 1988; 71 : 467-72.
22. Curuk MA, Baysal E, Gupta RB, Sharma S, Huisman THJ. An IVS-I-117 (G->A) acceptor splice site mutation in the α1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population. Br J Haematol 1993; 85 : 148-52.
23. Brittenham G, Lozoff B, Harris JW, Kan YW, Dozy AM, Nayudu NVS. Alpha globin gene number. Population and restriction endonuclease studies. Blood 1980; 55 : 706-8.