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Screening for the Known Αlpha Thalassemia Deletions by Polymerase Chain Reaction

Year 2017, , 59 - 64, 01.10.2017

Kiran Tauseef Bukhari Nouman Noor Sadaf Humayoun Humaira Zafar Noor Khan Lakhnana

https://doi.org/10.5455/umj.20170608074047

Abstract

Thalassemia is the quantitatively inherited disorder of haemoglobin polypeptide chain synthesis. Awareness about the exact frequency of disease in our country, Pakistan, along with the appropriate knowledge of diagnostic and prevention approach will be a step forward to combat thalassemia in Pakistan. The proposed review article will provide updated information regarding the exact frequency and distribution of thalassemia in neonates in Pakistan and Internationally. All this ultimately provide a great help in establishing the policies for thalassemia prevention and control programs in Pakistan. Thalassemia is the quantitatively inherited disorder of hemoglobin polypeptide chain synthesis. Awareness about the exact frequency of disease in our country, Pakistan, along with the appropriate knowledge of diagnostic and prevention approach will be a step forward to combat thalassemia in Pakistan. The proposed review article will provide updated information regarding the exact frequency and distribution of thalassemia in neonates in Pakistan and Internationally. All this ultimately provide a great help in establishing the policies for thalassemia prevention and control programs in Pakistan.

Keywords

Alpha Thalassemia Deletions Polymerase chain reaction Diagnosis Prevention

References

  • Stephen Raja JV, Rachchh MA, Gokani RH. Recent advances in gene therapy for thalassemia. J Pharm Bioallied Sci. 2012; 4(3):194-201.
  • Panyasai S, Sringam P, Fucharoen G, Sanchaisuriya K, Fucharoen S. A simplified screening for α-thalassemia 1 (SEA type) using a combination of a modified osmotic fragility test and a direct PCR on whole blood cell lysates. 2002;108(2): 74-8.
  • Neishabury M, Poorfathollah AA, Kahrizi l. Alpha thalassemia: deletion analysis in Iran.Archives Iran Med.2001; 4(4):160-4.
  • Fucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakdi S, et al. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. Southeast Asian J Trop Med Public Health. 1991;22:16-29.
  • Pornprasert S, Wiengkum T, Srithep S, Chainoi I, Singboottra P, Wongwiwatthananukit S.Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis. Korean J Lab Med. 2011 Jul;31(3):138-42.
  • Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S, et al. Rapid diagnosis of alpha-thalassemia by melting curve analysis. J Mol Diagn. 2010;12:354-358.
  • Gapor SA, Bakar AMZ, Farouk AFA. Explaining ethnic relations in Malaysia through the “concentric circle model”: case studies of the states of Perak and Kelantan, Malaysia. European Journal of Social Sciences. 2009;12(2):252-258.
  • Sriroongrueng W, Pornpatkul M, Panich V, Fucharoen S. α- thalassemia incidence in southern Thailand by restriction endonuclease analysis of globin DNA from placental blood at Songklanagarind hospital. Southeast Asian Journal of Tropical Medicine and Public Health. 1997;28(supplement 3):93–96
  • Zygulska LM, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G. Prevalence of α-thalassemias in northern Thailand. Human Genetics. 1996;98(3):345–347.
  • Rosnah B, Rosline H, Ain FA. Detection of Common Deletional Alpha-Thalassemia Spectrum by Molecular Technique in Kelantan, Northeastern Malaysia. ISRN Haematol. 2012;46(2):989.
  • Mohan H. The haematopoietic system. In: Mohan H, Mohan P, Mohan T, editors. The textbook of pathology. 5th ed. New Delhi: Jaypee Brothers Medical Publishers; 2008. pp. 397– 402.
  • Mouélé R, Pambou O, Feingold J, Galactéros F. α- thalassemia in Bantu population from Congo-Brazzaville: its interaction with sickle cell anemia. Human Heredity. 2000;50(2):118–125.
  • Burgess-Beusse B, Farrell C, Gaszner M, Litt M, Mutskov V, Recillas-Targa F, et al. The insulation of genes from external enhancers and silencing chromatin. Proc Natl Acad Sci U S A. 2002;99(Suppl 4):16433–7.
  • Calmels B, Ferguson C, Laukkanen MO, Adler R, Faulhaber M, Kim HJ, et al. Recurrent retroviral vector integration at the Mds1/Evi1 locus in nonhuman primate hematopoietic cells. Blood. 2005;106:2530–3.
  • Carey BW, Markoulaki S, Hanna J, Saha K, Gao Q, Mitalipova M, et al. Reprogramming of murine and human somatic cells using a single polycistronic vector. Proc Natl Acad Sci U S A. 2009;106:157–62.
  • Chin JY, Kuan JY, Lonkar PS, Krause DS, Seidman MM, Peterson KR, et al. Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids. Proc Natl Acad Sci U S A. 2008;105:13514–9.
  • Dave UP, Akagi K, Tripathi R, Cleveland SM, Thompson MA, Yi M, et al. Murine leukemias with retroviral insertions at Lmo2 are predictive of the leukemias induced in SCID-X1 patients following retroviral gene therapy. PLoS Genet. 2009;5:e1000491.
  • Bernini LF. Geographic distribution of alpha thalassemia. Cambridge Univ Press. 2001;878:94.
  • Beutler E, West C. Haemoglobin differences between African-Americans and whites; the role of iron deficiency and alpha thalassemia on haemoglobin levels and mean corpuscular volume. Blood. 2005;106:740-5.
  • Vichinsky EP, Macklin EA, Waye JS. Changes in epidemiology of thalassemia in North America: a new minority disease. Pediatrics. 2005;116:818-25.
  • Steensma DP, gibbons RJ, Higgs DR. Acquired alpha thalassemia in association with myelodysplastic syndrome and other haematological malignancies. Blood. 2005;105(2): 443-52.
  • Harteveld CL, Higgs DR. Alpha thalassemia. Orphanet J Rare Dis. 2010;5:13.
  • Chi DH,Waye JS. Hydrops fetalis caused by alpha thalassemia, an emerging health proble. Blood. 1998; 91: 2213-22.
  • Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H et al. Identification of acquired somatic mutations in the gene encoding chromatin remodeling factor ATXR in the alpha thalassemia myelodysplasia syndrome (ATMDS). Nat Genet. 2003; 334: 446-9.
  • Khan SN, Hasan F, Sollaino C, Perseu L, Riazuddin S. Molecular characterization of alpha-thalassemia in Pakistan. Hemoglobin. 2003;27(3):161-6.
  • Usman M, Moinuddin M, Ghani R, UsmanS. Screening of Five Common Beta Thalassemia Mutations in the Pakistani Population A basis for prenatal diagnosis. Sultan Qaboos Univ Med J. 2009; 9(3): 305-10.
  • Khateeb B, Moatter T, Shaghil AM, Haroon S, Kakepoto GN.Genetic diversity of beta-thalassemia mutations in Pakistani population. J Pak Med Assoc. 2000;50(9):293-6.
  • Zorai A, Harteveld CL, Bakir A, Van DP, Falfoul A, Delalgi K, et al. Molecular spectrum of alpha thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin. 2002; 26: 353-62.
  • Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S et al. Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin. 2007;31(4):439-52.
  • Finalyson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N et al. thalassemia trait caused by frameshift mutations in exon 2 of the alpha-2 globin gene: HBA2:c.131 deIT and HBA2:c.143delA. Haemoglobin. 2012;36(5):511-5.
  • Akbari MT, Hamid M. Identification of α globin gene variants: a report from Iran.Arach Iran Med. 2012;15(9):564-7.

Year 2017, , 59 - 64, 01.10.2017

Kiran Tauseef Bukhari Nouman Noor Sadaf Humayoun Humaira Zafar Noor Khan Lakhnana

https://doi.org/10.5455/umj.20170608074047

Abstract

References

  • Stephen Raja JV, Rachchh MA, Gokani RH. Recent advances in gene therapy for thalassemia. J Pharm Bioallied Sci. 2012; 4(3):194-201.
  • Panyasai S, Sringam P, Fucharoen G, Sanchaisuriya K, Fucharoen S. A simplified screening for α-thalassemia 1 (SEA type) using a combination of a modified osmotic fragility test and a direct PCR on whole blood cell lysates. 2002;108(2): 74-8.
  • Neishabury M, Poorfathollah AA, Kahrizi l. Alpha thalassemia: deletion analysis in Iran.Archives Iran Med.2001; 4(4):160-4.
  • Fucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakdi S, et al. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. Southeast Asian J Trop Med Public Health. 1991;22:16-29.
  • Pornprasert S, Wiengkum T, Srithep S, Chainoi I, Singboottra P, Wongwiwatthananukit S.Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis. Korean J Lab Med. 2011 Jul;31(3):138-42.
  • Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S, et al. Rapid diagnosis of alpha-thalassemia by melting curve analysis. J Mol Diagn. 2010;12:354-358.
  • Gapor SA, Bakar AMZ, Farouk AFA. Explaining ethnic relations in Malaysia through the “concentric circle model”: case studies of the states of Perak and Kelantan, Malaysia. European Journal of Social Sciences. 2009;12(2):252-258.
  • Sriroongrueng W, Pornpatkul M, Panich V, Fucharoen S. α- thalassemia incidence in southern Thailand by restriction endonuclease analysis of globin DNA from placental blood at Songklanagarind hospital. Southeast Asian Journal of Tropical Medicine and Public Health. 1997;28(supplement 3):93–96
  • Zygulska LM, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G. Prevalence of α-thalassemias in northern Thailand. Human Genetics. 1996;98(3):345–347.
  • Rosnah B, Rosline H, Ain FA. Detection of Common Deletional Alpha-Thalassemia Spectrum by Molecular Technique in Kelantan, Northeastern Malaysia. ISRN Haematol. 2012;46(2):989.
  • Mohan H. The haematopoietic system. In: Mohan H, Mohan P, Mohan T, editors. The textbook of pathology. 5th ed. New Delhi: Jaypee Brothers Medical Publishers; 2008. pp. 397– 402.
  • Mouélé R, Pambou O, Feingold J, Galactéros F. α- thalassemia in Bantu population from Congo-Brazzaville: its interaction with sickle cell anemia. Human Heredity. 2000;50(2):118–125.
  • Burgess-Beusse B, Farrell C, Gaszner M, Litt M, Mutskov V, Recillas-Targa F, et al. The insulation of genes from external enhancers and silencing chromatin. Proc Natl Acad Sci U S A. 2002;99(Suppl 4):16433–7.
  • Calmels B, Ferguson C, Laukkanen MO, Adler R, Faulhaber M, Kim HJ, et al. Recurrent retroviral vector integration at the Mds1/Evi1 locus in nonhuman primate hematopoietic cells. Blood. 2005;106:2530–3.
  • Carey BW, Markoulaki S, Hanna J, Saha K, Gao Q, Mitalipova M, et al. Reprogramming of murine and human somatic cells using a single polycistronic vector. Proc Natl Acad Sci U S A. 2009;106:157–62.
  • Chin JY, Kuan JY, Lonkar PS, Krause DS, Seidman MM, Peterson KR, et al. Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids. Proc Natl Acad Sci U S A. 2008;105:13514–9.
  • Dave UP, Akagi K, Tripathi R, Cleveland SM, Thompson MA, Yi M, et al. Murine leukemias with retroviral insertions at Lmo2 are predictive of the leukemias induced in SCID-X1 patients following retroviral gene therapy. PLoS Genet. 2009;5:e1000491.
  • Bernini LF. Geographic distribution of alpha thalassemia. Cambridge Univ Press. 2001;878:94.
  • Beutler E, West C. Haemoglobin differences between African-Americans and whites; the role of iron deficiency and alpha thalassemia on haemoglobin levels and mean corpuscular volume. Blood. 2005;106:740-5.
  • Vichinsky EP, Macklin EA, Waye JS. Changes in epidemiology of thalassemia in North America: a new minority disease. Pediatrics. 2005;116:818-25.
  • Steensma DP, gibbons RJ, Higgs DR. Acquired alpha thalassemia in association with myelodysplastic syndrome and other haematological malignancies. Blood. 2005;105(2): 443-52.
  • Harteveld CL, Higgs DR. Alpha thalassemia. Orphanet J Rare Dis. 2010;5:13.
  • Chi DH,Waye JS. Hydrops fetalis caused by alpha thalassemia, an emerging health proble. Blood. 1998; 91: 2213-22.
  • Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H et al. Identification of acquired somatic mutations in the gene encoding chromatin remodeling factor ATXR in the alpha thalassemia myelodysplasia syndrome (ATMDS). Nat Genet. 2003; 334: 446-9.
  • Khan SN, Hasan F, Sollaino C, Perseu L, Riazuddin S. Molecular characterization of alpha-thalassemia in Pakistan. Hemoglobin. 2003;27(3):161-6.
  • Usman M, Moinuddin M, Ghani R, UsmanS. Screening of Five Common Beta Thalassemia Mutations in the Pakistani Population A basis for prenatal diagnosis. Sultan Qaboos Univ Med J. 2009; 9(3): 305-10.
  • Khateeb B, Moatter T, Shaghil AM, Haroon S, Kakepoto GN.Genetic diversity of beta-thalassemia mutations in Pakistani population. J Pak Med Assoc. 2000;50(9):293-6.
  • Zorai A, Harteveld CL, Bakir A, Van DP, Falfoul A, Delalgi K, et al. Molecular spectrum of alpha thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin. 2002; 26: 353-62.
  • Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S et al. Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin. 2007;31(4):439-52.
  • Finalyson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N et al. thalassemia trait caused by frameshift mutations in exon 2 of the alpha-2 globin gene: HBA2:c.131 deIT and HBA2:c.143delA. Haemoglobin. 2012;36(5):511-5.
  • Akbari MT, Hamid M. Identification of α globin gene variants: a report from Iran.Arach Iran Med. 2012;15(9):564-7.
There are 31 citations in total.

Details

Primary Language English
Journal Section Research Article
Authors

Kiran Tauseef Bukhari

Nouman Noor

Sadaf Humayoun

Humaira Zafar

Noor Khan Lakhnana

Publication Date October 1, 2017
Published in Issue Year 2017

Cite

Vancouver Bukhari KT, Noor N, Humayoun S, Zafar H, Lakhnana NK. Screening for the Known Αlpha Thalassemia Deletions by Polymerase Chain Reaction. ULUTAS MED J. 2017;3(4):59-64.