K. E (2011) Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Deutsches Arzteblatt Int 108(31–32). https://doi.org/10.3238/arztebl.2011.0532
Gaziev J, Marziali M, Isgrò A et al (2013) Bone marrow transplantation for thalassemia from alternative related donors: improved outcomes with a new approach. Blood 122(15):2751–2756. https://doi.org/10.1182/blood-2013-07-513473
Article CAS PubMed Google Scholar
Cai L, Bai H, Mahairaki V, Gao Y, He C, Wen Y et al (2018) A Universal Approach to correct various HBB gene mutations in human stem cells for Gene Therapy of Beta-Thalassemia and Sickle Cell Disease. Stem Cells Transl Med 7(1):87–97. https://doi.org/10.1002/sctm.17-0066
Article CAS PubMed Google Scholar
Bhukhanvala DS, Sorathiya SM, Shah AP, Patel AG, Gupte SC (2012) Prevalence and hematological profile of β-thalassemia and sickle cell anemia in four communities of Surat city. Indian J Hum Genet 18(2):167–171. https://doi.org/10.4103/0971-6866.100752
Article CAS PubMed PubMed Central Google Scholar
Purohit A, Singh K, Kalla AR, Bohra M, Kumar M, Saini S (2021) Evaluation of β-Thalassaemia cases for common mutations in Western Rajasthan. Indian J Hematol Blood Transfus 37(4):684–688. https://doi.org/10.1007/s12288-021-01414-z
Article PubMed PubMed Central Google Scholar
Mohanty SS, Parihar S, Huda RK, Toteja GS, Sharma AK (2022) Prevalence of sickle cell anemia, β-thalassemia and glucose-6-phosphate dehydrogenase deficiency among the tribal population residing in the Aravali hills of Sirohi region of Rajasthan state. Clin Epidemiol Global Health 13:100916. https://doi.org/10.1016/j.cegh.2021.100916
Yadav SS, Panchal P, Menon KC (2022) Prevalence and management of β-Thalassemia in India. Hemoglobin 46(1):27–32. https://doi.org/10.1080/03630269.2021.2001346
Article CAS PubMed Google Scholar
Kumar R, Singh K, Panigrahi I, Agarwal S (2013) Genetic heterogeneity of Beta globin mutations among asian-indians and Importance in genetic counselling and diagnosis. Mediterr J Hematol Infect Dis 5(1):e2013003. https://doi.org/10.4084/MJHID.2013.003
Article PubMed PubMed Central Google Scholar
Althumairi A, AlQarni AM, Alkaltham NK, AlJishi S, Hakami AM, Abdalla LMO et al (2024) Diagnostic test performance of the Mentzer index in evaluating Saudi children with microcytosis. Front Med (Lausanne) 11:1361805. https://doi.org/10.3389/fmed.2024.1361805
Lee JS, Cho SI, Park SS, Seong MW (2021) Molecular basis and diagnosis of Thalassemia. Blood Res 56(0):S39–S43. https://doi.org/10.5045/br.2021.2020332
Article CAS PubMed Google Scholar
Mohanty D, Colah RB, Gorakshakar AC et al (2013) Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet 4(1):33–42. https://doi.org/10.1007/s12687-012-0114-0
Article CAS PubMed Google Scholar
Tabassum S, Khakwani M, Fayyaz A, Taj N (2022) Role of Mentzer index for differentiating iron deficiency anemia and beta thalassemia trait in pregnant women. Pak J Med Sci 38(4Part–II):878–882. https://doi.org/10.12669/pjms.38.4.4635
Article PubMed PubMed Central Google Scholar
Jain R, Saena S (2019) Study of abnormal haemoglobin variants in patients of anaemia using high performance liquid chromatography (HPLC) in Gujarat, India. Trop J Pathol Microbiol 5(11):925–933. https://doi.org/10.17511/jopm.2019.i11.15
Mohanty D, Colah R (2008) DNA isolation from blood and chorionic villus tissue. Laboratory manual for screening diagnosis and molecular analysis of hemoglobinopathies and red cell enzymopathies, 1st edn. Bhalani Publishing House, Mumbai, pp 98–101
Pre-Conception-Pre-Natal-Diagnostic-Techniques-Act-1994. Available at https://www.indiacode.nic.in/handle/123456789/1937?sam_handle=123456789/1362#:~:text=An%20Act%20to%20provide%20for,linked%20disorders%20and%20for%20the. (Last accessed August 12 2023)
Langer AL, Beta-Thalassemia (2000) Sep 28 [updated 2023 Jul 20]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (eds) GeneReviews3® [Internet]. University of Washington, Seattle, Seattle (WA). 1993–2023. PMID: 20301599.
Giardine B, Borg J, Viennas E et al (2014) Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 42(Database issue):D1063–D1069. https://doi.org/10.1093/nar/gkt911
Article CAS PubMed Google Scholar
Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi ARR (2004) Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene. J Hum Genet 49(8):408–413. https://doi.org/10.1007/s10038-004-0169-9
Article CAS PubMed Google Scholar
Kelkar K, Ramanan V, Anand S et al (2020) HBB gene mutation spectrum in an Indian cohort of 1530 cases using an in-house targeted next-generation sequencing assay. J Hematopathol 13(4):239–248. https://doi.org/10.1007/s12308-020-00414-8
Sinha S, Black ML, Agarwal S et al (2009) Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J 3(1–4):51–62. https://doi.org/10.1007/s11568-010-9132-3
Article CAS PubMed Google Scholar
Agarwal S, Gupta A, Gupta UR, Sarwai S, Phadke S, Agarwal SS (2003) Prenatal diagnosis in beta-thalassemia: an Indian experience. Fetal Diagn Ther 18(5):328–332. https://doi.org/10.1159/000071975
Article CAS PubMed Google Scholar
Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a Joint Consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Wand H, Martschenko DO, Smitherman A et al (2023) Preventive Genomics Program Co-design Working Group. Re-envisioning community genetics: community empowerment in preventive genomics. J Community Genet Published Online Febr 11:1–11. https://doi.org/10.1007/s12687-023-00638-y
(Mahadik) Thakur C, Vaz F, Banerjee M, Kapadia C, PG Natrajan P, Yagnik H, Gangal S (2000) Prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in India. Prenat Diagn 20(3):194–201
Ampomah MO, Atkin K, Flemming K (2022) The perception of parents with a child with sickle cell disease in Ghana towards prenatal diagnosis. J Community Genet 13(6):587–595. https://doi.org/10.1007/s12687-022-00609-9
Article PubMed PubMed Central Google Scholar
Reed-Embleton H, Arambepola S, Dixon S, Maldonado BN et al (2020) A cost-of-illness analysis of β-Thalassaemia major in children in Sri Lanka - experience from a tertiary level teaching hospital. BMC Pediatr 20(1):257. https://doi.org/10.1186/s12887-020-02160-3
Article PubMed PubMed Central Google Scholar
Ahmadnezhad E, Sepehrvand N, Jahani FF et al (2012) Evaluation and cost analysis of national health policy of Thalassaemia screening in west-azerbaijan province of Iran. Int J Prev Med 3(10):687–692
PubMed PubMed Central Google Scholar
Colaco S, Colah R, Nadkarni A (2022) Significance of borderline HbA2 levels in β thalassemia carrier screening. Sci Rep 12(1):5414
留言 (0)