Management of the Thalassemias

Abstract

During the last 30 years, in addition to the considerable progress made in control and prevention of thalassemias 3 , there have also been major advances in their symptomatic management, at least in wealthier countries where appropriate facilities are available. Remarkable improvements in survival in the severe forms of thalassemia have followed the more judicious use of blood transfusion and, in particular, the ability to manage the iron accumulation resulting from transfusion with its severe and ultimately lethal effects on endocrine and cardiac function.

Current approach to iron chelation in children

“…The use of LIC as an initiation criterion has not been systematically evaluated. LIC values in healthy subjects are up to 1·8 mg Fe/g d.w., and LIC exceeding 3 mg Fe/g d.w. has been recommended as an indication to start chelation therapy and to avoid chelator toxicity (Olivieri & Brittenham, ).…”

“…In order to avoid iron damage and chelator toxicity, iron stores should be maintained at safe levels. The suggested LIC range, derived from clinical observations in genetic haemochromatosis, is 3–7 mg Fe/g d.w. (Olivieri & Brittenham, ). Maintenance of SF between 500 and 1000 μg/l has been associated with additional beneficial effects on complication‐free survival (Telfer et al , ; Borgna‐Pignatti et al , ).…”

Perbandingan Kadar N-Acetyl-ß-D-Glucosaminidase Urin pada Thalassemia ß Mayor Anak yang Mendapat Deferipron dan Deferasiroks

“…Untuk melihat status besi tubuh dan kaitannya dengan efektivitas kelasi besi serta fungsi organ, sebaiknya dilakukan pemeriksaan yang lebih akurat, seperti dengan liver iron consentration (LIC) atau MRI. 19 Faktor lain yang memengaruhi gangguan tubulus ginjal adalah anemia kronik yang dapat menyebabkan stres oksidatif pada sel tubulus. 1 Pada penelitian ini tidak dilakukan penilaian respons stres oksidatif yang terjadi pada subjek penelitian sebagai akibat adanya anemia kronik pada subjek penelitian.…”

Impact of epigenetic mechanisms on therapeutic approaches of hemoglobinopathies

“…This change results in the formation of an abnormal hemoglobin (HbS), which polymerizes in the deoxygenated state [9,10] inducing a RBC deformation with the characteristic sickle shape. Currently, the clinical management of β-thalassemia and SCD patients involves regular blood transfusions associated with chelating agents to remove the excess transfused iron [11]. Another therapy is represented by allogeneic hematopoietic stem cells (HSCs) transplantation that presents a high cure rate.…”