Umbilical Cord Blood Screening for the Detection of Common Deletional Mutations of α-Thalassemia in Bangladesh

References

• Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018;391(10116):155–167.
   PubMed Web of Science ®Google Scholar
• Muncie HL, Campbell JS. α And β thalassemia. Am Fam Physician. 2009;80(4):339–344.
   PubMed Web of Science ®Google Scholar
• Harteveld CL, Higgs DR. α-thalassaemia. Orphanet J Rare Dis. 2010;5:13
   PubMed Web of Science ®Google Scholar
• Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011742.
   PubMed Web of Science ®Google Scholar
• Mullen S, Talaulikar D. Acquired α-thalassemia associated with myelodysplastic syndromes . Blood. 2018;132(20):2209.
   PubMed Web of Science ®Google Scholar
• Noor FA, Sultana N, Bhuyan GS, et al. Nationwide carrier detection and molecular characterization of β-thalassemia and Hemoglobin E variants in Bangladeshi population. Orphanet J Rare Dis. 2020;15(1):15.
   PubMed Web of Science ®Google Scholar
• Hossain MS, Raheem E, Sultana TA, et al. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet J Rare Dis. 2017;12(1):93.
   PubMed Web of Science ®Google Scholar
• Aziz MA, Begum M, Islam MS, et al. Haemoglobin E/β Thalassaemia – A study in Bangabandhu Sheikh Mujib Medical University. Bangabandhu Sheikh Mujib Med Univ J. 2010;2(2):78–80.
   Google Scholar
• Anwar S. Molecular screening of common deletional mutations in α-thalassemia using fetal cord blood in Bangladesh. Shahjalal University of Science and Technology. Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjala University of Science and Technology, Sylhet, Bangladesh. B.Sc. thesis, 2018.
   Google Scholar
• Michlitsch J, Azimi M, Hoppe C, et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer. 2009;52(4):486–490.
   PubMed Web of Science ®Google Scholar
• de Souza A, Wolan V, Battochio A, et al. Newborn screening: current status in Alberta, Canada. Int J Neonatal Screen. 2019;5(4):37.
   Web of Science ®Google Scholar
• Therrell BL, Padilla CD, Loeber JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171–187.
   PubMed Web of Science ®Google Scholar
• The World Bank. Dying for change: poor people’s experience of health and ill-health. Washington, DC; 2005; [cited 2020 Jun 18]. Available from http://documents.worldbank.org/curated/en/123521468332446432/Dying-for-change-Poor-peoples- experience-of-health-and-ill-health.
   Google Scholar
• Kapoor S, Kabra M. Newborn screening in India: current perspectives. Indian Pediatr. 2010;47(3):219–224.
   PubMed Web of Science ®Google Scholar
• Carroll PD, Christensen RD. New and underutilized uses of umbilical cord blood in neonatal care. Matern Health Neonatol Perinatol. 2015;1:16.
   PubMedGoogle Scholar
• Saadallah AA, Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis. 2007;30(4):482–489.
   PubMed Web of Science ®Google Scholar
• Padilla CD, Krotoski D, Therrell BL. Jr. Newborn screening progress in developing countries-overcoming internal barriers. Semin Perinatol. 2010;34(2):145–155.
   PubMed Web of Science ®Google Scholar
• Clinical and Laboratory Standards Institute. Blood collection on filter paper for newborn screening programs: Approved Standard NBS01-A6. 6th ed. Wayne (PA, USA): CLSI; 2013.
   Google Scholar
• Mousavi SH, Zarrabi M, Abroun S, et al. Umbilical cord blood quality and quantity: collection up to transplantation. Asian J Transfus Sci. 2019;13(2):79–89.
   PubMed Web of Science ®Google Scholar
• Lopes LA, Bernardino E, Crozeta K, et al. Good practices in collecting umbilical cord and placental blood. Rev Lat Am Enfermagem. 2016;24:e2770.
   PubMed Web of Science ®Google Scholar
• Carroll PD, Livingston E, Baer VL, et al. Evaluating otherwise-discarded umbilical cord blood as a source for a neonate’s complete blood cell count at various time points. Neonatology. 2018;114(1):82–86.
   PubMed Web of Science ®Google Scholar
• Molchanova TP, Pobedimskaya DD, Postnikov YuV. A simplified procedure for sequencing amplified DNA containing the α2- or α1-globin gene. Hemoglobin. 1994;18(3):251–255.
   PubMed Web of Science ®Google Scholar
• Origa R, Moi P. α-Thalassemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews^® [Internet]. Seattle (WA, USA): University of Washington; 2016. https://www.ncbi.nlm.nih.gov/books/NBK1435/.
   Google Scholar
• Hemoglobinopathy Reference Laboratory. Multiplex Gap PCR for α-thalassemia deletions (GTR: GTR000561269.1). In: Genetic Testing Registry [Internet]. 2019; [cited 2020 Feb 11]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/561269/performance-characteristics/.
   Google Scholar
• van Assendelft OW, Doumas BT, Fairbanks VF, et al. Determination of serum iron, total iron-binding capacity and percent transferrin saturation; approved standard. Clin Lab Stand Inst. 1998;18(19):C61–A.
   Google Scholar
• Taylor A. Measurement of zinc in clinical samples. Ann Clin Biochem. 1997;34(2):142–150.
   PubMedGoogle Scholar
• Sirichotiyakul S, Tantipalakorn C, Sanguansermsri T, et al. Erythrocyte osmotic fragility test for screening of α-thalassemia-1 and β-thalassemia trait in pregnancy. Int J Gynaecol Obstet. 2004;86(3):347–350.
   PubMed Web of Science ®Google Scholar
• Noguera NI, Tallano CE, Bragós IM, et al. Modified salting-out method for DNA isolation from newborn cord blood nucleated cells. J Clin Lab Anal. 2000;14(6):280–283.
   PubMed Web of Science ®Google Scholar
• Basha B, Mularo F, Cook JR. Design, validation, and clinical implementation of a gap-polymerase chain reaction method for α-thalassemia genotyping using capillary electrophoresis. Hemoglobin. 2017;41(2):124–130.
   PubMed Web of Science ®Google Scholar
• Tan A-C, Quah TC, Low PS, et al. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1):250–251.
   PubMed Web of Science ®Google Scholar
• Chang YH, Yang SH, Wang TF, et al. Complete blood count reference values of cord blood in Taiwan and the influence of gender and delivery route on them. Pediatr Neonatol. 2011;52(3):155–160.
   PubMed Web of Science ®Google Scholar
• Katsares V, Paparidis Z, Nikolaidou E, et al. Reference ranges for umbilical cord blood hematological values. Lab Med. 2009;40(7):437–439.
   Google Scholar
• Nadkarni A, Phanasgaonkar S, Colah R, et al. Prevalence and molecular characterization of α-thalassemia syndromes among Indians. Genet Test. 2008;12(2):177–180.
   PubMedGoogle Scholar
• Mondal SK, Mandal S. Prevalence of thalassemia and hemoglobinopathy in eastern India: a 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci. 2016;10(1):105–110.
   PubMedGoogle Scholar
• Rahman MM, Khan L. Co-inheritance of α- and β-thalassemia in a Bangladeshi family. Bangabandhu Sheikh Mujib Medical Univ J. 2017;10(2):123–125.
   Google Scholar
• Piel FB, Weatherall DJ. The α-thalassemias. N Engl J Med. 2014;371(20):1908–1916.
   PubMed Web of Science ®Google Scholar
• Galanello R, Cao A. Gene test review. α-Thalassemia. Genet Med. 2011;13(2):83–88.
   PubMed Web of Science ®Google Scholar
• Higgs DR. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011700.
   PubMedGoogle Scholar
• Higgs DR. The pathophysiology and clinical features of α-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, editors. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management. 2nd ed. New York (NY, USA): Cambridge University Press; 2009. p. 266–295.
   Google Scholar
• Ahmad R, Saleem M, Aloysious N, et al. Distribution of α thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research. Int J Mol Sci. 2013;14(9):18599–18614.
   PubMed Web of Science ®Google Scholar
• Lam E-T, Chan C-L, Tsui N-Y, et al. Clinical applications of molecular technologies in hematology. J Med Diagn Meth. 2013;2:4.
   Google Scholar
• Kho SL, Chua KH, George E, et al. A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β0-thalassaemia deletion. Sci Rep. 2015;5:13937
   PubMed Web of Science ®Google Scholar
• Chen Y-L. Capillary electrophoresis combining three-step multiplex polymerase chain reactions for diagnosing α-thalassemia. Electrophoresis. 2011;32(3–4):379–385.
   PubMed Web of Science ®Google Scholar
• Qiu Q-W, Wu D-D, Yu L-H, et al. Evidence of recent natural selection on the Southeast Asian deletion (––SEA) causing α-thalassemia in South China. BMC Evol Biol. 2013;13:63.
   PubMed Web of Science ®Google Scholar
• Kabir T. Elucidation of the mutation spectrum of β thalassemia in Bangladeshi patients [M.Sc. Thesis]. Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh; 2019.
   Google Scholar
• Upadhye D, Jain D, Nadkarni A, et al. Red cell indices and hemoglobin profile of newborn babies with both the sickle gene and α Thalassaemia in Central India. Indian J Hematol Blood Transfus. 2019;35(1):109–113.
   PubMed Web of Science ®Google Scholar
• Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
   PubMed Web of Science ®Google Scholar
• Pornprasert S, Wiengkum T, Srithep S, et al. 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;31(3):138–142.
   PubMed Web of Science ®Google Scholar
• Suman FR, Raj RSS, Priyathersini N, et al. Biological reference interval for hematological profile of umbilical cord blood: a study conducted at a tertiary care centre in South India. J Clin Diagn Res. 2015;9(10):SC07–SC09.
   PubMedGoogle Scholar
• Shamim AA, Mashreky SR, Ferdous T, et al. Pregnant women diet quality and its sociodemographic determinants in Southwestern Bangladesh. Food Nutr Bull. 2016;37(1):14–26.
   PubMed Web of Science ®Google Scholar
• Ahmed T, Ireen S, Ahmed AS, et al. Nutrition of children and women in Bangladesh: trends and directions for the future. J Health Popul Nutr. 2012;30(1):1–11.
   PubMed Web of Science ®Google Scholar
• Ohls RK. Developmental erythropoiesis. Fetal and Neonatal Physiology, 4th ed. Philadelphia (PA, USA): Elsevier; 2017. p. 1112–1134.
   Google Scholar
• Gao J, Monaghan SA. Red blood cell/hemoglobin disorders. In: Hsi ED, Editor. Foundations in Diagnostic Pathology: Hematopathology, 2nd ed. Philadelphia (PA, USA): Elsevier; 2018. p. 3–56.
   Google Scholar
• Begum JA, Amin SK, Khan WA, et al. Evaluation of naked eye single tube red cell osmotic fragility test (NESTROF) in detecting β thalassaemia trait. DS Hosp J. 2005;21(2):44–48.
   Google Scholar
• Bari MI, Sharmin LS, Paul PK. Validity of naked eye single tube red cell osmotic fragility test for the siagnosis of β-thalassemia – a case control study. TAJ: J of Teachers Assoc. 2011;24(1):1–5.
   Google Scholar
• Ferdousi A, Ahmad M, Das Sharma J, et al. AZ. Role of naked eye single tube red cell osmotic fragility Test (NESTROFT) in detecting β-thalassemia trait. J Bangladesh Coll Phys. 2018;36(4):145–152.
   Google Scholar
• Perseu L, Satta S, Moi P, et al. KLF1 gene mutations cause borderline HbA(2). Blood. 2011;118(16):4454–4458.
   PubMed Web of Science ®Google Scholar
• Galanello R, Ruggeri R, Addis M, et al. Hemoglobin A2 in iron deficient β-thalassemia heterozygotes. Hemoglobin. 1981;5(6):613–618.
   PubMed Web of Science ®Google Scholar
• Youssry I, El Badawy A, Samy RM, et al. Prevalence of α-thalassemia in the Egyptian population. Hemoglobin. 2018;42(4):243–246.
   PubMed Web of Science ®Google Scholar
• Chhotray GP, Dash BP, Ranjit M. Spectrum of hemoglobinopathies in Orissa, India. Hemoglobin. 2004;28(2):117–122.
   PubMed Web of Science ®Google Scholar
• Bandyopadhyay B, Nandi S, Mitra K, et al. A comparative study on perceptions and practices among parents of thalassemic children attending two different institutions. Indian J Community Med. 2003;28(3):128–132.
   Google Scholar
• Ganczakowski M, Bowden DK, Maitland K, et al. Thalassaemia in Vanuatu, South-West Pacific: frequency and haematological phenotypes of young children. Br J Haematol. 1995;89(3):485–495.
   PubMed Web of Science ®Google Scholar
• Pearson HA, Cohen AR, Giardina PJV, et al. The changing profile of homozygous β-thalassemia: demography, ethnicity, and age distribution of current North American patients and changes in two decades. Pediatrics. 1996;97(3):352–356.
   PubMed Web of Science ®Google Scholar
• Deyde VM, Lo BB, Khalifa IO, et al. Epidemiological profile of hemoglobinopathies in the Mauritanian population. Ann Hematol. 2002;81(6):320–321.
   PubMed Web of Science ®Google Scholar
• Trehan A, Sharma N, Das R, et al. Clinicoinvestigational and demographic profile of children with thalassemia major. Indian J Hematol Blood Transfus. 2015;31(1):121–126.
   PubMed Web of Science ®Google Scholar