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

Dissanayake, Ruwangi; Samarasinghe, Nayana; Waidyanatha, Samantha; Pathirana, Sajeewani; Neththikumara, Nilaksha; Dissanayake, Vajira H W; Wetthasinghe, Kalum; Gooneratne, Lallindra; Wickramasinghe, Pujitha.

Afiliación

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 en En | MEDLINE | ID: mdl-35705926

Asunto(s)

Proteínas de Transporte de Catión/genética; Proteína de la Hemocromatosis; Sobrecarga de Hierro; Receptores de Transferrina; Globinas beta/genética; Talasemia beta; Niño; Femenino; Ferritinas; Proteína de la Hemocromatosis/genética; Antígenos de Histocompatibilidad Clase I/genética; Antígenos de Histocompatibilidad Clase I/metabolismo; Humanos; Sobrecarga de Hierro/complicaciones; Sobrecarga de Hierro/genética; Masculino; Mutación; Receptores de Transferrina/genética; Sri Lanka; Talasemia beta/complicaciones; Talasemia beta/genética; Talasemia beta/terapia

Palabras clave

Iron overload; T2* MRI; Transfusion dependent beta thalassaemia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Transferrina / Talasemia beta / Sobrecarga de Hierro / Proteínas de Transporte de Catión / Globinas beta / Proteína de la Hemocromatosis Tipo de estudio: Risk_factors_studies Límite: Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Sri Lanka

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google