Evaluation of Glomerular Filtration Rate and Urinary Abnormalities in Adult Cancer Patients Prior to Chemotherapy at the Surgical Oncology Unit (UCO) of CHU Donka
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
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