Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study

Abstract

Despite recent advances in understanding the pathophysiologic mechanisms behind the thalassemia intermedia (TI) phenotype, data on the effects of treatment are deficient. To provide such data, we evaluated 584 TI patients for the associations between patient and disease characteristics, treatment received, and the rate of complications. The most common disease-related complications were osteoporosis, extramedullary hematopoeisis (EMH), hypogonadism, and cholelithiasis, followed by thrombosis, pulmonary hypertension (PHT), abnormal liver function, and leg ulcers. Hypothyroidism, heart failure, and diabetes mellitus were less frequently observed. On multivariate analysis, older age and splenectomy were independently associated with an increased risk of most disease-related complications. Transfusion therapy was protective for thrombosis, EMH, PHT, heart failure, cholelithiasis, and leg ulcers. However, transfusion therapy was associated with an increased risk of endocrinopathy. Iron chelation therapy was in turn protective for endocrinopathy and PHT. Hydroxyurea treatment was associated with an increased risk of hypogonadism yet was protective for EMH, PHT, leg ulcers, hypothyroidism, and osteoporosis. Attention should be paid to the impact of age on complications in TI, and the beneficial role of splenectomy deserves revisiting. This study provides evidence that calls for prospective evaluation of the roles of transfusion, iron chelation, and hydroxyurea therapy in

Comprehensive care for thalassemia: not just the treatment of anemia

“…The authors recommend that routine nutrition assessment and nutrition support should be integrated in comprehensive care of patients with thalassemia. The prevalence of osteoporosis among thalassemia intermedia in this study is much lower than that found in the previous study by Taher and colleagues (13.78% vs. 22.9%) [7,9]. The great variety of genotypic determinants, patient selection, and treatment strategies might explain this significant difference.…”

“…The great variety of genotypic determinants, patient selection, and treatment strategies might explain this significant difference. In the large cohort from Mediterranean Europe and the Middle East, age >35 years, female sex, splenectomy, and regular blood transfusion were associated with an increased risk for osteoporosis, while iron chelation and hydroxyurea treatment are protective factors [9]. Nevertheless, the pathogenesis of osteoporosis in thalassemia disease remains poorly understood.…”

Non-transfusion-dependent thalassemias

“…[59][60][61] Clinically, the prevalence of thrombotic events in patients with β-thalassemia intermedia can reach up to 20%, compared to less than 1% in patients with β-thalassemia major. 30,[62][63][64] These events are mostly venous and primarily occur in splenectomized patients (22.5% vs. 3.5% prevalence rate in splenectomized vs. non-splenectomized patients; P<0.001). 30,64 Other risk factors for thrombotic events include advancing age, total hemoglobin level less than 9 g/dL, history of thrombotic or other vascular events, elevated platelet (>500x10 9 /L) and nucleated red blood cell counts (>300x10 6 /L), 30,43,64,65 while other conventional risk factors are often absent in such patients.…”

“…29 Ineffective erythropoiesis in NTDT patients also forces expansion of the hematopoietic tissue in areas other than the liver and spleen, mostly in the form of masses termed extramedullary hematopoietic pseudotumors (prevalence of approx. 20% compared to <1% in transfusion-dependent patients 26,30 ). Almost all body sites may be involved including the lymph nodes, thymus, heart, breasts, prostate, broad ligaments, kidneys, adrenal glands, pleura, retroperitoneal tissue, skin, peripheral and cranial nerves, and the spinal canal.…”

Orodental Considerations in Thalassemia Patients

“…Patients with thalassemia intermedia have a moderate anemia and show a heterogeneous hematological picture ranging in severity from β-thalassemia minor to β-thalassemia major [17]. The need of transfusions differentiates β-thalassemia intermedia from β-thalassemia major [16].…”