Morphological Patterns of Anaemia and Prevalence of Haemoglobinopathy in State of Haryana
Study from a Tertiary Hospital
Keywords:
hemoglobinopathy, Haryana, prevalence, thalassemia minor
Abstract
Background: Hemoglobinopathies including thalassemias are important prevalent group of erythrocytic genetic disorders found in various parts of the world and are important cause of morbidity and mortality. Methods: Samples were run on 5 part differential cell counter and after analyzing various RBC parameters and peripheral smear, the appropriate sample on biorad HPLC for hemoglobinopathy and mutation study was done. Statistical analysis performed. Study population included two groups- anemic pregnant women and students. Result: Out of 361 cases; 27 were positive for haemoglobinopathies giving a prevalence of 7.5 % in anemic mothers. Positive cases included 22 cases of β-thalassemia trait, 2 HbS trait, 1 case of HbD trait, 1 case of HbE trait and 1 case of HbE homozygous. Out of a total of 630 cases, 38 were found positive for various haemoglobinopathies including 36 cases of β-thalassemia trait, 1 case of thalassemia intermedia and 1 case of HbLepore. DNA analysis was done for 10 cases in which the common mutation found was IVSI-5 followed by codon 41/42 and codon 8/9 Conclusion: Proper screening studies should be done to diagnose the cases and reduce the prevalence of thalassemia major by informing and educating such cases.References
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2) Weatherall DJ. Phenotype-genotype relationship in monogenic disease: lessons from thalassemias. Nat Rev Genet 2001;2(4):245-55.
3) Sood SK, Madan N, Colah R, Sharma S, Apte SV, editors Collaborative study on thalessemia: An ICMR Task Force Study. New Delhi: Indian Council of Medical research; 1993.
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10) Miller SA, Dykes DD, Polesky HF.A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acids Research. 1988 Feb 11;16(3):1215.
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12) Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of beta thalassemias and hemoglobin disorders. Expert Rev Hematol 2010;3:103-17.
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15) Rao S, Kar R, Gupta SK, Chopra A, Saxena R. Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India .Indian J Med Res. 2010;132:513-9.
16) Tyagi S, Kabra M, Tandon N, Saxena R, Patil HP, Choudhry VP. ClinicoHaematological Profile Of Thalassemia Patients. Int J Hum Genet 2003;3(4):251-8.
17) Gupta PK, Kumar H, Kumar S, Jaiprakash BM. Cation exchange high performance liquid chromatography for diagnosis of hemoglobinopathies. MJAFI 2009;65:33-7.
18) Bain B.J.,Chapman C. A survey of current UK practice for antenatal screening for inherited disorders of globin chain synthesis. J ClinPathol. 1998;51(5):383-9.
19) George E, Jamal AR, Khalid F, Osman K. High performance liquid chromatography as a screening tool for classical beta thalassemia trair in Malaysia. Malays J Med Sci. 2001;8:40-6.
20) Tyagi S, Saxena R, Choudhry VP. HPLC- how necessary is it for hemoglobinopathy diagnosis in India? Indian J Pathol Microbiol. 2003;46:390-3.
21) Pignatti CB, Galanello R. Thalassemias and related disorders: Quantitative disorders of hemoglobin synthesis. In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA et al, editors. Wintrobe’s clinical hematology. 12th ed. Philadelphia: Lippincott Williams & Wilkins; 2009. p. 1084-131.
22) Frischer H. Bowman J. Hemoglobin E, an oxidatively unstable mutation. J Lab Clin Med 1975;85:531-9.
23) Rees DC, Porter JB, Clegg JB, Weatherall DJ. Why are hemoglobin F levels increased in HbE/β Thalassemia? Blood 1999;94:3199-204.
24) Kishore B, Khare P, Gupta RJ, Bisht S, Majumdar K. Hemoglobin E disease in North Indian population: a report of 11 cases. Hematology 2007;12:343-7.
25) Fairbanks VF, Gilchrist GS, Brimhall B, Jereb JA, Goldston EC. Hemoglobin E trait reexamined:a cause of microcytosis and erythrocytosis. Blood 1979;53:109-15.
26) Cunningham TM. Hemoglobin E in Undochinese refugees. West J Med 1982;137(3):186-90.
27) Rees DC, Porter JB, Clegg JB, Weatherall DJ. Why are hemoglobin F levels increased in HbE/β Thalassemia? Blood 1999;94:3199-204.
28) Hashmi NK, Moiz B, Nusrat M, Hashmi MR. Chromatographic analysis of HbS for the diagnosis of various sickle cell disorders in Pakistan. Ann Hematol 2008;87(8):639-45.
29) Mohanty D, Mukherjee MB, Colah RB, Wadia M, Ghosh K, Chottray GP et al. Iron deficiency anaemia in sickle cell disorders in India. Indian J Med Res. 2008;127(4):366-9.
2) Weatherall DJ. Phenotype-genotype relationship in monogenic disease: lessons from thalassemias. Nat Rev Genet 2001;2(4):245-55.
3) Sood SK, Madan N, Colah R, Sharma S, Apte SV, editors Collaborative study on thalessemia: An ICMR Task Force Study. New Delhi: Indian Council of Medical research; 1993.
4) Orkin SH, Nathan DG. Hematology of infancy and childhood: disorders of hemoglobin: the thalassemias. 6th ed. Philadelphia: W.B. Saunders; 2003.p.874.
5) Galleleno R, Borgna-Pignatti C. wintrobes Clinical Hematology: Thalassemia and related disorders: Quantitative disorders of hemoglobin Synthesis. 12thed . Philadelphia: Lippincott Williams and Wilkins; 2009.p.1093
6) Galleleno R, Barella S, Gasperini D, Perseu L, paglietti E, Sollaino C et al. Evaluation of an automatic HPLC analyser for thalassemia and hemoglobin variants screening. J automat Chem 1995;17:73-6.
7) Gwendolyn M, Higgins C, Higgins T. Laboratory investigation of haemoglobinopathies and thalassemias. Review and update. Clin Chem 2000;46:1284-90.
8) Bain BJ, Lewis SM, Bates I. Basic haematological techniques. In Lewis SM, Bain BJ, Bates I, eds. Dacie& Lewis Practical Hematology. 10th ed. London,UK: Churchill Livingstone; 2010 .p. 25-54
9) Niazi M, Tahir M, Raziq FE, Hameed A. Usefullness of red cell indices in differentiating microcytic hypochromic anemias. Gomal J Med Sci 2010;8(2):125-9.
10) Miller SA, Dykes DD, Polesky HF.A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acids Research. 1988 Feb 11;16(3):1215.
11) Newton CR, Graham A, Hepteinstall LE et al (1989) Analysis of any point mutation in DNA.The amplification refractory mutation system (ARMS). Nucleic Acids Research 17: 2503-16
12) Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of beta thalassemias and hemoglobin disorders. Expert Rev Hematol 2010;3:103-17.
13) Madan N, Sharma S, Sood SK, Colah R, Bhatia HM. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J of Hum Genet. 2010;16:16-25.
14) Madan N, Sharma S, Sood SK, Colah R, Bhatia HM. Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India. Indian J of Hum Genet. 2010;16:16-25.
15) Rao S, Kar R, Gupta SK, Chopra A, Saxena R. Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India .Indian J Med Res. 2010;132:513-9.
16) Tyagi S, Kabra M, Tandon N, Saxena R, Patil HP, Choudhry VP. ClinicoHaematological Profile Of Thalassemia Patients. Int J Hum Genet 2003;3(4):251-8.
17) Gupta PK, Kumar H, Kumar S, Jaiprakash BM. Cation exchange high performance liquid chromatography for diagnosis of hemoglobinopathies. MJAFI 2009;65:33-7.
18) Bain B.J.,Chapman C. A survey of current UK practice for antenatal screening for inherited disorders of globin chain synthesis. J ClinPathol. 1998;51(5):383-9.
19) George E, Jamal AR, Khalid F, Osman K. High performance liquid chromatography as a screening tool for classical beta thalassemia trair in Malaysia. Malays J Med Sci. 2001;8:40-6.
20) Tyagi S, Saxena R, Choudhry VP. HPLC- how necessary is it for hemoglobinopathy diagnosis in India? Indian J Pathol Microbiol. 2003;46:390-3.
21) Pignatti CB, Galanello R. Thalassemias and related disorders: Quantitative disorders of hemoglobin synthesis. In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA et al, editors. Wintrobe’s clinical hematology. 12th ed. Philadelphia: Lippincott Williams & Wilkins; 2009. p. 1084-131.
22) Frischer H. Bowman J. Hemoglobin E, an oxidatively unstable mutation. J Lab Clin Med 1975;85:531-9.
23) Rees DC, Porter JB, Clegg JB, Weatherall DJ. Why are hemoglobin F levels increased in HbE/β Thalassemia? Blood 1999;94:3199-204.
24) Kishore B, Khare P, Gupta RJ, Bisht S, Majumdar K. Hemoglobin E disease in North Indian population: a report of 11 cases. Hematology 2007;12:343-7.
25) Fairbanks VF, Gilchrist GS, Brimhall B, Jereb JA, Goldston EC. Hemoglobin E trait reexamined:a cause of microcytosis and erythrocytosis. Blood 1979;53:109-15.
26) Cunningham TM. Hemoglobin E in Undochinese refugees. West J Med 1982;137(3):186-90.
27) Rees DC, Porter JB, Clegg JB, Weatherall DJ. Why are hemoglobin F levels increased in HbE/β Thalassemia? Blood 1999;94:3199-204.
28) Hashmi NK, Moiz B, Nusrat M, Hashmi MR. Chromatographic analysis of HbS for the diagnosis of various sickle cell disorders in Pakistan. Ann Hematol 2008;87(8):639-45.
29) Mohanty D, Mukherjee MB, Colah RB, Wadia M, Ghosh K, Chottray GP et al. Iron deficiency anaemia in sickle cell disorders in India. Indian J Med Res. 2008;127(4):366-9.
Published
2018-07-20
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