Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling

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

Article  CAS  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  Google Scholar 

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

Google Scholar 

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.

Google Scholar 

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

Article  Google Scholar 

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

Article  Google Scholar 

(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

Article  CAS  Google Scholar 

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

Article  CAS  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif