Amadou Yaya Diallo¹*, Kadiatou Mamadou Bobo Barry¹, Soriba Bangoura¹, Noumouké Baldé², Djenabou Diallo², Mamadou Malal Diallo¹, Mohamed Lamine Tégui Camara¹, Mamadou Diallo² and Mohamed Lamine Kaba¹

¹Service de Néphrologie, Hémodialyse, CHU, Donka, Guinea
²Unité de Chirurgie Oncologie, CHU, Donka, Guinea

*Corresponding Author: Amadou Yaya Diallo, Service de Néphrologie, Hémodialyse, CHU, Donka, Guinea.

Received: June 26, 2023; Published: July 29, 2023

Abstract

  Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. Prevention by carrier screening and prenatal diagnosis is needed in populations with high prevalence of the disease. Keeping this in mind, this study was aimed at analyzing βthalassemia disorder which is inherited in an autosomal recessive fashion through mutant alleles from parents to their children. Blood and fetal samples of two families were collected at MINAR hospital and sent to NIBGE. DNA was extracted from blood and CVS by phenol-chloroform method and quantified using Nanodrop. Then DNA was amplified by ARMS-PCR followed by horizontal gel-electrophoresis. Results showed the presence of two most prevalent beta-thalassemia mutations IVS 1-5 and FSC 8-9 in Pakistani families. Family A segregating β-thalassemia was found to have IVS 1-5 mutation and parents were carrier for this mutation. Fetal sample of Family A was homozygous of the parental mutation. FSC 8-9 was the mutation found in blood samples of Family B. Parents and fetus both were carriers of this mutation. Genetic testing and prenatal diagnosis can reduce the frequency of β-thalassemia disorders in Pakistan.

Keywords: Beta-thalassemia; ARMS-PCR; Human Genome Project; Mutations IVS 1-5 and FSC 8-9

References

1. Stevens LA., et al. “Assessing kidney function - measured and estimated glomerular filtration rate”. The New England Journal of Medicine 354 (2006): 2473-2483.
2. National Kidney Foundation. KDOQI. “Clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification”. American Journal of Kidney Diseases (2002): S1-266.
3. Zimmer-Rapuch S., et al. “Gestion des agents anticancéreux chez les insuffisants rénaux”. Bulletin du Cancer (Paris) 99 (2012): 323-331.
4. LAUNAY-VACHER V., et al. “Chimiothérapie et toxicité rénale”. Bulletin du Cancer 95 (2008): F96-103.
5. Launay-Vacher V., et al. “Renal insufficiency and cancer treatments”. ESMO Open 4 (2016): e000091.v
6. Launay-Vacher V., et al. “Prevalence of renal insufficiency in breast cancer patients and related pharmacological issues”. Breast Cancer Research Treatment  (2010): 745-753.
7. Launay-Vacher V., et al. “Drug management of prostate cancer: prevalence and consequences of renal insufficiency”. Clinical Genitourinary Cancer (2009): E83-89.
8. Launay-Vacher V., et al. “Lung cancer and renal insufficiency: prevalence and anticancer drug issues”. Lung 187 (2009): 69-74.
9. Gault N., et al. “Analyse des prescriptions hospitalières hors AMM des médicaments chez l’adulte et étude de la faisabilité de leur détection par le codage CIM-10 du PMSI”. Therapies (2021).
10. Compérat E., et al. “Comparaison des classifications TNM des 8es éditions de l’UICC et de l’AJCC en uropathologie”. Annals of Pathology2 (2019): 158-166.
11. Janus N., et al. “Cancer and renal insufficiency results of the BIRMA study”. British Journal of Cancer 103 (2010): 1815-1821.
12. Nakamura Y., et al. “Prevalence of anemia and chronic kidney disease in cancer patients: clinical significance for 1-year mortality”. Nihon Jinzo Gakkai shi 53 (2011): 38-45.
13. Canter D., et al. “Prevalence of baseline chronic kidney disease in patients presenting with solid renal tumors”. Urology 77 (2011): 781-785.
14. V Launay-Vacher., et al. “Prevalence of Renal Insufficiency in Cancer Patients and Implications for Anticancer”. Drug Management 110 (2007): 1376-1384.
15. L de Barros Pontes., et al. “Prevalence of renal insufficiency in elderly cancer patients in a tertiary cancer center”. 300-3 (2014).
16. TOURE M. LAMINE cancer et insuffisance rénale: aspects therapeutique à l'unité de chirurgie oncologique de l'hôpital national Donka. Thèse de doctorat. université Koffi Annan de Guinée (2022): 076.91.
17. N L Ainsworth., et al. “Evaluation of glomerular filtration rate estimation by Cockcroft-Gault, Jelliffe, Wright and Modification of Diet in Renal Disease (MDRD) formulae in oncology patients” 23 (2012): 1845-1853.
18. DJIBRIL M. Hassan insuffisance rénale aucours des hémopathies malignes au service d'hématologie de l'hôpital national Donka. Thèse de doctorat. Gamal Abdel Nasser de Conakry (2021): 59.

Citation

Citation: Amadou Yaya Diallo., et al. “Evaluation of Glomerular Filtration Rate and Urinary Abnormalities in Adult Cancer Patients Prior to Chemotherapy at the Surgical Oncology Unit (UCO) of CHU Donka" Acta Scientific Cancer Biology 7.5 (2023): 15-22.

Copyright

Copyright: © 2023 Amadou Yaya Diallo., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.