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Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake, Ruwangi; Samarasinghe, Nayana; Waidyanatha, Samantha; Pathirana, Sajeewani; Neththikumara, Nilaksha; Dissanayake, Vajira H W; Wetthasinghe, Kalum; Gooneratne, Lallindra; Wickramasinghe, Pujitha.
Affiliation
  • Dissanayake R; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. ruwangi@pdt.cmb.ac.lk.
  • Samarasinghe N; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. ruwangi@pdt.cmb.ac.lk.
  • Waidyanatha S; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Pathirana S; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Neththikumara N; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Wetthasinghe K; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Gooneratne L; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Wickramasinghe P; Department of Pathology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
BMC Pediatr ; 22(1): 344, 2022 06 15.
Article in En | MEDLINE | ID: mdl-35705926
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Transferrin / Beta-Thalassemia / Iron Overload / Cation Transport Proteins / Beta-Globins / Hemochromatosis Protein Type of study: Risk_factors_studies Limits: Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2022 Document type: Article Affiliation country: Sri Lanka Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Transferrin / Beta-Thalassemia / Iron Overload / Cation Transport Proteins / Beta-Globins / Hemochromatosis Protein Type of study: Risk_factors_studies Limits: Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2022 Document type: Article Affiliation country: Sri Lanka Country of publication: Reino Unido