Genotype-Phenotype Study of β-Thalassemia Patients in Sabah

References

• Thiyagarajan A, Bhattacharya S, Sharma N, et al. Need for a universal thalassemia screening programme in India? A public health perspective. J Fam Med Prim Care. 2019;8(5):1528–1532.
   PubMedGoogle Scholar
• Jaing T, Chang T, Chen S, et al. Molecular genetics of β-thalassemia. Medicine. 2021;100(45):e27522.
   PubMed Web of Science ®Google Scholar
• Motta I, Bou-Fakhredin R, Taher AT, et al. β-thalassemia: new therapeutic options beyond transfusion and iron chelation. Drugs. 2020;80(11):1053–1063.
   PubMed Web of Science ®Google Scholar
• Wong LP, George E, Tan JAMA. Public perceptions and attitudes toward thalassaemia: influencing factors in a multi-racial population. BMC Public Health. 2011;11(1):193.
   PubMedGoogle Scholar
• Ibrahim HM, Alias H, Muda Z, et al. Annual report of the Malaysian thalassaemia registry 2019. Malaysia Ministry of Health; 2019. p. 1–274.
   Google Scholar
• Pauzy LHM, Esa E, Mahani MN, et al. Thalassemia distribution based on screening programs in the population of the East Malaysian state of Sabah. J Blood Disord Transfus. 2018;9(1):2–5.
   Google Scholar
• Traivaree C, Monsereenusorn C, Rujkijyanont P, et al. Genotype – phenotype correlation among β-thalassemia and β-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis. J Blood Med. 2018;9:35–41.
   PubMed Web of Science ®Google Scholar
• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(Database issue):D1063–D1069. Available from: http://globin.cse.psu.edu
   PubMed Web of Science ®Google Scholar
• Masra F, Razak S, Murad N, et al. Genotype-phenotype correlation among haemoglobin E/β-thalassaemia patients. Res Sq. 2021;1:1–15.
   Google Scholar
• Shoujaa A, Moasses F, Mukhalalaty Y, et al. Genotype/phenotype correlation of β-thalassemia in Syrian patients: a cross-sectional study. Hemoglobin. 2020;44(1):42–46.
   PubMed Web of Science ®Google Scholar
• Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, et al. Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia. Cold Spring Harb Mol Case Stud. 2017;3(6):a001941.
   PubMedGoogle Scholar
• Curcio C, Benzoni E, Seia M, et al. HBG2 and HBG1 nucleotide substitutions and Hb F production in thalassemia patients. Am J Biomed Sci Res. 2019;4(4):220–224.
   Google Scholar
• Chen D, Zuo Y, Zhang X, et al. A genetic variant ameliorates β-thalassemia severity by epigenetic-mediated elevation of human fetal hemoglobin expression. Am J Hum Genet. 2017;101(1):130–138.
   PubMed Web of Science ®Google Scholar
• Breveglieri G, Bianchi N, Cosenza LC, et al. An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production. BMC Med Genet. 2017;18(1):93.
   PubMedGoogle Scholar
• Hariharan P, Gorivale M, Sawant P, et al. Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine. Sci Rep. 2021;11(1):20906.
   PubMed Web of Science ®Google Scholar
• Zhu Y, Shen N, Wang X, et al. α and β-thalassemia mutations in Hubei area of China. BMC Med Gen. 2020;21(1):6.
   Google Scholar
• Perera S, Allen A, Silva I, et al. Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka. Sci Rep. 2019;9:10116.
   PubMed Web of Science ®Google Scholar
• Hassan T, Zakaria M, Fathy M, et al. Association between genotype and disease complications in Egyptian patients with β thalassemia: a cross-sectional study. Sci Rep. 2018;8(1):1–9.
   PubMedGoogle Scholar
• Danjou F, Anni F, Perseu L, et al. Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica. 2012;97(7):989–993.
   PubMed Web of Science ®Google Scholar
• Abdullah UYH, Ibrahim HM, Mahmud NB, et al. Genotype-phenotype correlation of β-thalassemia in Malaysian population: toward effective genetic counseling. Hemoglobin. 2020;44(3):184–189.
   PubMed Web of Science ®Google Scholar
• Waye JS, Eng B, Hunt JA, et al. Filipino β-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis. Hum Genet. 1994;94(5):530–532.
   PubMed Web of Science ®Google Scholar
• Teh LK, George E, Lai MI, et al. Molecular basis of transfusion dependent β-thalassemia major patients in Sabah. J Hum Genet. 2014;59(3):119–123.
   PubMed Web of Science ®Google Scholar
• Rahim MRBA. Study of DNA for molecular analysis and biochemical markers from non-invasive samples in β-thalassaemia major patients [dissertation]. Kuala Lumpur: University of Malaya Kuala Lumpur; 2015.
   Google Scholar
• Ahmad R, Saleem M, Aloysious NS, 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
• Tan AS, 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
• Ma S, Cahalan S, LaMonte G, et al. Common PIEZO1 allele in African populations causes RBC dehydration and attenuates plasmodium infection. Cell. 2018;173(2):443–455.e12.
   PubMed Web of Science ®Google Scholar
• Eng B, Patterson M, Walker L, et al. Detection of severe nondeletional α-thalassemia mutations using a single-tube multiplex ARMS assay. Genet Test. 2001;5(4):327–329.
   PubMedGoogle Scholar
• Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of p-like globin gene cluster haplotypes. Am J Hematol. 1989;32:66–69.
   PubMed Web of Science ®Google Scholar
• Sripichai O, Whitacre J, Munkongdee T, et al. Genetic analysis of candidate modifier polymorphisms in Hb E–β0-thalassemia. Ann NY Acad Sci. 2005;1054:433–438.
   PubMed Web of Science ®Google Scholar
• Thidar AM, Myint TT, Naing DKS, et al. Palmaris longus agenesis (PLA) among Dusun & Bajau ethnic groups of Northern Borneo. Int J Collab Res Intern Med Public Heal. 2013;5(6):386–397.
   Google Scholar
• Tan JMA, Lee P, Wee Y, et al. High prevalence of α- and β-thalassemia in the Kadazandusuns in East Malaysia: challenges in providing effective health care for an indigenous group. J Biotech Biomed. 2010;2010:1–5.
   Google Scholar
• Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet. 2001;60(2):89–98.
   PubMed Web of Science ®Google Scholar
• Halim NB, Ben N, Bouafif A, et al. Consanguinity, endogamy, and genetic disorders in Tunisia. J Commun Genet. 2013;4:273–284.
   PubMedGoogle Scholar
• Ahmad L, Hassan M, Rana SM, et al. Prevalence of β-thalassemic patients associated with consanguinity and anti-HCV-antibody positivity – a cross sectional study. Pakistan J Zool. 2011;43(1):29–36.
   Web of Science ®Google Scholar
• Teh LK, Elizabeth G, Lai MI, et al. Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia. Malaysian J Med Sci. 2018;25(4):63–71.
   Google Scholar
• Chin JG, Juliana I, Hamid A, et al. Demographic and socioeconomic profile of transfusion dependent β-thalassemia major patients in Sabah. Malaysian J Med Heal Sci. 2019;15(11):102–108.
   Google Scholar
• Pugh-Kitingan J. Cultural and religious diversity in Sabah and relationships with surrounding areas. Islam Cult Divers Southeast Asia. 2015;1:269–294.
   Google Scholar
• Suali L, Jeffree M, Salih FAM, et al. 1st International virtual conference on integrative medicine 2021 (ICIM 2021) in conjunction with the 4th international biohealth science conference. J Complement Integr Med. 2021;18(4):s21.
   Google Scholar
• Beshlawy AE, Salama AA, Roshdy M, et al. A study of red blood cell alloimmunization and autoimmunization among 200 multitransfused Egyptian β thalassemia patients. Sci Rep. 2020;10(1):21079.
   PubMed Web of Science ®Google Scholar
• Yamashiro Y, Hattori Y, Nitta T, et al. Filipino-type β0-thalassemia has 116 kb deletion: its correct breakpoints and five cases found in Japan. Bull Yamaguchi Med Sch. 2012;59(3–4):53–59.
   Google Scholar
• van Ziffle J, Yang W, Chehab FF. Homozygous deletion of six olfactory receptor genes in a subset of individuals with β-thalassemia. PLOS One. 2011;6(2):2–6.
   Web of Science ®Google Scholar
• Musallam KM, Rivella S, Vichinsky E, et al. Non-transfusion-dependent thalassemias. Haematologica. 2013;98(6):833–844.
   PubMed Web of Science ®Google Scholar
• Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
   PubMed Web of Science ®Google Scholar
• Kumar R, Kaur A, Agarwal S. Influence of Xmn1Gγ (HBG2 c.-211 C → T) globin gene polymorphism on phenotype of thalassemia patients of North India. Indian J Hematol Blood Transfus. 2014;30(4):286–290.
   PubMed Web of Science ®Google Scholar
• Manganas K, Delicou S, Xydaki A, et al. Thalassemia intermedia caused by a combination of a-globin gene triplication with heterozygosity for β0 thalassemia: a case report. OBM Genet. 2019; 393:1.
   Google Scholar
• Maryami F, Azita A, Fallah MS. A large cohort study of genotype and phenotype correlations of β-thalassemia in Iranian population. Int J Hematol Stem Cell Res. 2015;9(4):198–202.
   PubMedGoogle Scholar
• El-Kamah GY, Amr KS, Thalassemia — from genotype to phenotype. In: Munshi A, editor. Inherited hemoglobin disorders. London: IntechOpen; 2015. p. 13–35.
   Google Scholar
• Jiang F, Li J, Zhou JY, et al. Regulatory single nucleotide polymorphism rs368698783 (G>A): a genetic modifier of Hb F production only under erythropoietic stress characteristic for β-globin chain deficiency? Hemoglobin. 2019;43(1):73–75.
   PubMed Web of Science ®Google Scholar