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Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review.
J Obstet Gynaecol 2017; 37(7):861-863JO

Abstract

Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners. The Consultant Radiologist, using local analgesia, under ultrasound cover, performed these as an outpatient procedure, at the Teaching Hospital Kandy & Suwasevana Hospital Kandy. The amniotic fluid was analysed by the team of Senior Geneticists, at the Genetech Molecular Diagnostics and School of Gene Technology, Colombo, via the polymerase-chain-reaction based ARMS (Amplification Refractory Mutation Systems) assay. The genetic results indicated the presence of 21% thalassaemia major foetuses, 53% thalassaemia traits and 26% foetuses without thalassaemia mutations. The predominance of the IVS1-5(G-C) mutation in the Sri Lankan population is exemplified, with a low prevalence of HbE thalassaemia. Impact statement Thalassaemia is the commonest monogenic disease in Sri Lanka affecting over 3500 children and half-a-million thalassaemia carriers. Although pre-natal diagnosis by amniocentesis was practised universally for many years, this could not be performed in Sri Lanka as genetic diagnostic facilities were not available until 2005. Therefore, parents with a thalassaemia major child limited their families to one child, by choice or by termination. The results of this study point to a 21% probability of thalassaemia major in the next child, giving the parents a guarded optimism to conceive another child without thalassaemia disease. With siblings being the highest HLA compatibility for Bone Marrow Transplant, that is now being established in Sri Lanka as a permanent cure for thalassaemia, this will bring a ray of hope for these desperate parents to finally cure their previous sick child. Although, 95% of the Sri Lankan mutated genetic sites for thalassaemia are known, more research will be needed to identify the other rare sites. The publication of this paper, with its novelty for pre-natal diagnosis, would encourage clinicians to practice it in other centres and to extend it to families with other genetic disorders.

Authors+Show Affiliations

a Suwasevana Hospital , Kandy , Sri Lanka.b Teaching Hospital Kandy , Kandy , Sri Lanka.c Genetech Molecular Diagnostics and School of Gene Technology in Colombo , Colombo , Sri Lanka.d Faculty of Dental Sciences , University of Peradeniya , Peradeniya , Sri Lanka.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28397548

Citation

Nanayakkara, Kalinga Khemal, et al. "Pre-natal Diagnosis of Thalassaemia in Sri Lanka: a Ten Year Review." Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, vol. 37, no. 7, 2017, pp. 861-863.
Nanayakkara KK, Rodrigo UG, Perera KLN, et al. Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review. J Obstet Gynaecol. 2017;37(7):861-863.
Nanayakkara, K. K., Rodrigo, U. G., Perera, K. L. N., & Nanayakkara, C. D. (2017). Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review. Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 37(7), pp. 861-863. doi:10.1080/01443615.2017.1306841.
Nanayakkara KK, et al. Pre-natal Diagnosis of Thalassaemia in Sri Lanka: a Ten Year Review. J Obstet Gynaecol. 2017;37(7):861-863. PubMed PMID: 28397548.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review. AU - Nanayakkara,Kalinga Khemal, AU - Rodrigo,Undugodage Ganganath, AU - Perera,Kuda Liyanage Nandika, AU - Nanayakkara,Chinthani Deepthi, Y1 - 2017/04/11/ PY - 2017/4/12/pubmed PY - 2018/5/17/medline PY - 2017/4/12/entrez KW - Thalassaemia KW - amniocentesis KW - carrier KW - mutation SP - 861 EP - 863 JF - Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology JO - J Obstet Gynaecol VL - 37 IS - 7 N2 - Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners. The Consultant Radiologist, using local analgesia, under ultrasound cover, performed these as an outpatient procedure, at the Teaching Hospital Kandy & Suwasevana Hospital Kandy. The amniotic fluid was analysed by the team of Senior Geneticists, at the Genetech Molecular Diagnostics and School of Gene Technology, Colombo, via the polymerase-chain-reaction based ARMS (Amplification Refractory Mutation Systems) assay. The genetic results indicated the presence of 21% thalassaemia major foetuses, 53% thalassaemia traits and 26% foetuses without thalassaemia mutations. The predominance of the IVS1-5(G-C) mutation in the Sri Lankan population is exemplified, with a low prevalence of HbE thalassaemia. Impact statement Thalassaemia is the commonest monogenic disease in Sri Lanka affecting over 3500 children and half-a-million thalassaemia carriers. Although pre-natal diagnosis by amniocentesis was practised universally for many years, this could not be performed in Sri Lanka as genetic diagnostic facilities were not available until 2005. Therefore, parents with a thalassaemia major child limited their families to one child, by choice or by termination. The results of this study point to a 21% probability of thalassaemia major in the next child, giving the parents a guarded optimism to conceive another child without thalassaemia disease. With siblings being the highest HLA compatibility for Bone Marrow Transplant, that is now being established in Sri Lanka as a permanent cure for thalassaemia, this will bring a ray of hope for these desperate parents to finally cure their previous sick child. Although, 95% of the Sri Lankan mutated genetic sites for thalassaemia are known, more research will be needed to identify the other rare sites. The publication of this paper, with its novelty for pre-natal diagnosis, would encourage clinicians to practice it in other centres and to extend it to families with other genetic disorders. SN - 1364-6893 UR - https://www.unboundmedicine.com/medline/citation/28397548/Pre_natal_diagnosis_of_thalassaemia_in_Sri_Lanka:_A_ten_year_review_ L2 - http://www.tandfonline.com/doi/full/10.1080/01443615.2017.1306841 DB - PRIME DP - Unbound Medicine ER -