A case of beta-thalassaemia major resistant to standard treatment

Abstract

IntroduzIoneLe talassemie sono disordini genetici in cui la produzione di emoglobina normale è soppressa, in parte o completamente, a causa di un difetto di sintesi di una o più catene globiniche. Vi sono diversi tipi di talassemie; quelle di maggiore rilevanza clinica comprendono le α-talassemie, le δβ-talassemie e le β-talassemie. Il trattamento raccomandato per la talassemia major comprende regolari trasfusioni di sangue, con intervalli da due a cinque settimane, per mantenere il livello di emoglobina (Hb) pre-trasfusionale al di sopra di 9-10,5 g/dl. Questo regime trasfusionale permette una crescita normale, assicura un'attività fisica normale e sopprime adeguatamente l'attività del midollo osseo [1].Tuttavia vi sono casi in cui la trasfusione non risulta praticabile, ad esempio per l'insorgenza di complicanze quali anemia emolitica autoimmune, reazioni avverse, reazioni trasfusionali febbrili non-emolitiche ed emolitiche, ecc.Riportiamo qui il caso di una ragazza affetta da β-talassemia (β+/β°) che presentava una situazione clinica molto grave dal momento che non poteva più ricevere ulteriori trasfusioni a causa di pregresse gravi reazioni emolitiche post-trasfusionali e che ha mostrato una risposta eccezionale a talidomide.Il caso che descriviamo di seguito è in parte ripreso da una precedente pubblicazione, un caso di beta-talassemia major resistente alle terapie convenzionali AbstractWe report the case of a 22-year-old woman from Albania, with thalassaemia major, in severe clinical condition who could no longer be transfused due to the occurrence of severe, acute, post-transfusional reactions. After 10 years of treatment, she failed to respond to hydroxyurea. When she received thalidomide, haemoglobin levels increased from 3.7 g/dl to 9 g/dl. Since then, at 22 months of follow-up, the therapy is still effective and well tolerated. The case gives the opportunity to describe the clinical use of thalidomide, and its potential in the management of beta-thalassaemia. Keywords: thalassaemia, thalidomide, foetal haemoglobin

Consensus Predictive Model for Human K562 Cell Growth Inhibition through Enalos Cloud Platform

“…Despite this, it has been demonstrated that long‐term use of hydroxyurea may cause side effects and also presents significantly diminished beneficial action . Moreover, increased HbF production is obtained through short‐chain fatty‐acid consumption; similar results have been observed with 5‐azacytidine and thalidomide . Examples of erythropoietic growth factors employed for further activation of erythropoiesis include erythropoietin and darvopoietin …”

Thalidomide for Patients With Thalassemia Intermedia: A Retrospective Multicenter Clinical Study

“…12 Moreover, thalidomide is an HbF inducer that promotes γ-globin gene expression. 13,14 A few case reports and retrospective analyses have documented significant effects of thalidomide on NTDT or TDT, [15][16][17][18][19][20] that our group subsequently confirmed in a clinical trial. 21 However, the reliability of these studies was softened by the few patients studied and short-term follow-up.…”

“…Although the use of thalidomide to treat βthalassemia has achieved good results, there is still no consensus on the optimal and maintenance dose for clinical application. At present, the therapeutic dose of thalidomide for β-thalassemia is ~50-100 mg/d, [15][16][17]19,20 and the dose-response relationship is yet to be established. Compared with a daily dose of 50 mg/d, we observed that the dose increment did not give significant added benefit.…”

Cephalometric analysis of patients with beta thalassemia receiving fetal hemoglobin induction therapy

“… 9 Hydroxyurea is given at a dose of 5–10 mg/kg/day or as much as 20 mg/kg/day, 10 whereas thalidomide is given along with hydroxyurea at a dose of 2–10 mg/kg. 11 Both drugs are used primarily for sickle cell anemia; however, HbF induction therapy has also been used for patients with beta thalassemia major.…”