Advertisement

The Indian Journal of Pediatrics

, Volume 61, Issue 3, pp 237–248 | Cite as

Hematological status of β-thalassemics in Madras

  • Natarajan Mohan
  • Rita Sarkar
Original Articles

Abstract

Although rapid technical advances have taken place in the diagnosis of β-thalassemia, still the hematological factors were found to be suitable screening test in areas like Indian subcontinent where a high prevalence of β-thalassemia trait was observed. Among various thalassemias reported in Asian Indians, β-thalassemia account for about 80% and is responsible for very high infantile mortality. Despite this, little is known about the hematological status of β-thalassemias among this ethnic group which is associated with more than five different predominant β-globin mutation with high frequency and variable number of rare ones. The present study is the first report of hematological status of β-thalassemia among this ethnic group particularly from Tamil Nadu, Southern India, who are still practising high degree of consanguinity. In the present study, a total number of 364 β-thalassemics were investigated. This includes 84 cases of homozygous β-thalasemias and the remaining 280 were heterozygotes. The hematological factors such as red cell indices, hemoglobin F and hemoglobin A2 were assessed. The results revealed a wide spectrum of hematological variables ranging from severe form as that of Mediterranean thalassemias to very mild form of anemia as that of african Negro population.

Key words

β-thalassemias Red cell indices HbF HbA2 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Gehlbach DL, Morgenstern LL. Antenatal screening for Thalassemia minor.Obstet Gynecol 1988; 71: 801–803.PubMedGoogle Scholar
  2. 2.
    Thein SL, Hesketh C, Wallace RB et al. The molecular basis of thalassemia major and thalassemia intermedia in Asian Indians: Application to prenatal diagnosis.Br J Haemotol 1988; 70: 225–231.Google Scholar
  3. 3.
    Sukumaran PK. Abnormal hemoglobins in India. In:Trends in Hematology, Calcutta, J.B. Chatterjea Memorial Committee, 1975; 225–261.Google Scholar
  4. 4.
    Earley, A, Valman HB, Altman DG et al. Microcytosis, Iron deficiency, and thalassemia in preschool children.Arch Dis Childhood 1989; 65: 610–614.CrossRefGoogle Scholar
  5. 5.
    Ehrhardt P. Iron deficiency in young Bradford children from different ethnic groups.Br Med J 1986; 262: 90–93.Google Scholar
  6. 6.
    Venkatesan R, Sarkar R, Old JM. β-thalassemia mutations and their linkage to b-haplotypes in Tamil Nadu in Southern Indian.Clin Genet 1992; 42: 251–256.PubMedCrossRefGoogle Scholar
  7. 7.
    Mohan N.Haemoglobinopathies and Thalassaemia Syndromes—Clinical, Cytological, Biochemical and Genetic Aspects. Thesis submitted to the University of Madras for the degree of Doctor of Philosophy, Madras, 600 113, India, 1986.Google Scholar
  8. 8.
    Dacie JV, Lewis SM. In:Practical Hematology, New York: Churchill Livingstone 1984; 27–36.Google Scholar
  9. 9.
    Kutaish N. Automated staining of bone marow and peripheral blood by a modified Wright's stain technic.Am J Clin Pathol 1982; 77: 319–321.PubMedGoogle Scholar
  10. 10.
    Kleihauer E. Determination of fetal hemoglobin. In:Haemoglobinopathies, Cleveland: CRC Press, 1974.Google Scholar
  11. 11.
    Betke K, Marti HR, Schlicht I. Estimation of small percentage of fetal hemoglobin.Nature 1959; 184: 1877–1898.PubMedCrossRefGoogle Scholar
  12. 12.
    Schroder WA, Huisman TH. Hemoglobin F in beta thalassemia and related conditions.Ann NY Acad Sc 1980; 344: 240–252.CrossRefGoogle Scholar
  13. 13.
    Williams HL, Johnson DJ, Haut HJ. Simultaneous spectrophotometry of Fe2+ and Cu2+ in serum denatured with guanidine hydrochloride.Clin Chem 1977; 23: 237–240.PubMedGoogle Scholar
  14. 14.
    Bain BJ. Screening of antenatal patients in a multiethnic community for β thalssaemia trait.J Clin Pathol 1988; 41: 481–485.PubMedCrossRefGoogle Scholar
  15. 15.
    Weatherall DJ, Clegg JB. In:The Thalassemia Syndromes, Oxford, England: Blackwell Scientific Publications, 1981.Google Scholar
  16. 16.
    Rifkind RA. Destruction of injured red cellsin vivo.Am J Med 1966; 41: 711–723.PubMedCrossRefGoogle Scholar
  17. 17.
    Jacob HS. Mechanism of heinz body formation and attachment to red cell membrane.Semin Hematol 1970; 7: 341–354.PubMedGoogle Scholar
  18. 18.
    Mohan N, Sarkar R. New observation on intracellular distribution of Hb F and red cell morphology in Indian beta+ thalassemias.Med Sc Res 1988; 16: 1021–1022.Google Scholar
  19. 19.
    Polliack A, Rachmilewitz EA. Ultrastructural studies in β-thalassemia major.Br J Haematol 1973; 24: 319–329.PubMedGoogle Scholar
  20. 20.
    Knox-Macaulay HHM, Weatherall DJ, Clegg JB et al. The clinical and biosynthetic characterization of a β-thalassemia.Br J Haematol 1972; 22: 497–512.PubMedGoogle Scholar
  21. 21.
    Stasiw DM, Puccini C, Cerny LC et al. Some hemorheological and hematological parameters in heterozygous β-thalassemia.Biorheol 1977; 14: 1–10.Google Scholar
  22. 22.
    Tillmann W, Schroter W. Rheological properties of erythrocytes in heterozygous and homozygous β-thalassemia.Br J Haematol 1979; 43: 401–411.PubMedGoogle Scholar
  23. 23.
    Brunori M, Falcioni G, Fioretti E et al Formation of superoxide in the auto-oxidation of the isolated α and β chains of human hemoglobin and its involvement in hemichrome participation.Eur J Biochem 1975; 53: 99–104.CrossRefGoogle Scholar
  24. 24.
    Stocks J, Offerman EL, Modell CB et al. The susceptibility to auto-oxidation of human red cell lipids in health and disease.Br J Haematol 1972; 23: 713–724.PubMedGoogle Scholar
  25. 25.
    Rouyer-Fessard P, Garel MC, Domenget C et al. Study of membrane protein defects and a hemoglobin chains of red blood cells in human β thalassemia.J Biol Chem 1989; 264: 19092–19098.PubMedGoogle Scholar
  26. 26.
    Kar BC, Satapathy RK, Kulozik M et al. Sickle cell disease in Orissa State, India.Lancet 1986; ii: 1198–1201.CrossRefGoogle Scholar
  27. 27.
    Safaya S, Rieder RF, Dowling CE et al. Homozygous β thalassemia without anemia.Blood 1989; 73: 324–328.PubMedGoogle Scholar
  28. 28.
    Wainscoat JS, Old JM, Weatherall DJ et al. The molecular basis for the clinical diversity of β thalassemia in Cypriots.Lancet 1983; i: 1235–1237.CrossRefGoogle Scholar
  29. 29.
    Kazazian HH, Boehm CD. Molecular basis and prenatal diagnosis of β-thalassemia.Blood 1988; 72: 1107–1116.PubMedGoogle Scholar
  30. 30.
    Weatherall DJ. Biochemical phenotypes of thalassemia in the American Negro population.Ann NY Acad Sc 1964; 119: 450–462.CrossRefGoogle Scholar
  31. 31.
    Pootrakul P, Wasi P, Na-Nakorn S. Haematological data in 312 cases of β-thalassemia trait in Thailand.Br J Haematol 1973; 24: 703–712.PubMedGoogle Scholar
  32. 32.
    Hoyle C, Kaeda J, Leslie J, Luzzatto L. Acquired β thalassemia trait in MDS.Br J Haematol 1991; 79: 116–131.PubMedGoogle Scholar
  33. 33.
    Lundh B, Gardner FH. The hematological response to androgens in sickle cell anemia.Scand J Haematol 1970; 7: 389–397.PubMedCrossRefGoogle Scholar
  34. 34.
    Pearson HA, McPhedran P, O'Brien RT et al. Comprehensive testing for thalassemia trait.Ann NY Acad Sc 1974; 232: 135–137.CrossRefGoogle Scholar
  35. 35.
    Thein SL, Hesketh C, Taylor P et al. Molecular basis of dominantly inherited inclusion body β-thalassemiaPNAS USA 1990; 87: 3924–3928.PubMedCrossRefGoogle Scholar
  36. 36.
    Galanello R, Ruggeri R, Paglietti E et al. A family with segregating triplicated α globin loci and β thalassemia.Blood 1983; 62: 1035–1040.PubMedGoogle Scholar
  37. 37.
    Thein SL, Al-Hakim I, Hoffbrand AV. Thalassemia intermedia: A new molecular basis.Br J Haematol 1984; 56: 333–337.PubMedGoogle Scholar
  38. 38.
    Capellini MD, Fiorelli G, Bernini LF. Interaction between homozygous ß° thalassemia and Swiss type of hereditary persistence of fetal hemoglobin.Br J Haematol 1981; 48: 561–572.Google Scholar
  39. 39.
    Varawalla NY, Old JM, Sarkar R et al. The spectrum of β-thalassemia mutations on the Indian subcontinent: The basis for prenatal diagnosis.Br J Haematol 1991; 78: 242–247.PubMedGoogle Scholar
  40. 40.
    Varawalla NY, Old JM, Weatherall DJ. Rare β-thalassemia mutations in Asian Indians.Br J Haematol 1991; 79: 640–644.PubMedGoogle Scholar
  41. 41.
    Isaacs D, Altman DG, Valman HB. Racial differences in red cell indices.J Clin Pathol 1986; 39: 105–109.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 1994

Authors and Affiliations

  • Natarajan Mohan
    • 1
  • Rita Sarkar
    • 2
  1. 1.Department of Radiology, Radiation Oncology DivisionUniversity of Texas Health Science CentreSan AntonioU.S.A.
  2. 2.Department of GeneticsPost-Graduate Institute of Basic Medical SciencesMadrasIndian

Personalised recommendations