Article

Contemporary approaches to treatment of beta-thalassemia intermedia.

American University of Beirut Medical Center, Beirut, Lebanon.
Blood reviews (Impact Factor: 7.19). 04/2012; 26 Suppl 1:S24-7. DOI: 10.1016/S0268-960X(12)70008-5
Source: PubMed

ABSTRACT Beta-thalassemia intermedia (TI) is associated with a variety of serious clinical complications that require proactive and comprehensive management. These include skeletal deformities and osteopenia, compensatory extramedullary hematopoiesis and tumor formation, progressive splenomegaly, a hypercoagulable state resulting in thromboembolic events and pulmonary hypertension, and increased gastrointestinal iron absorption that often results in nontransfusional iron overload and liver damage. Although TI is generally considered a non-transfusion-dependent thalassemia, transfusion therapy may be an important part of the comprehensive management of this disease. This review describes the current state of the art for medical management of TI, with particular focus on the roles of splenectomy, transfusion, and iron chelation therapy.

0 Bookmarks
 · 
80 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: In the absence of curative treatment, such as stem cell transplant, regular transfusions remain the mainstay of therapy for individuals with thalassemia major, a syndrome that results from marked ineffective erythropoiesis and the resultant anemia. The primary objectives of transfusion therapy are twofold: to suppress ineffective erythropoiesis and to ensure appropriate growth and development through childhood. In practice, a number of different transfusion protocols are in use across the developed world, with on-demand transfusion still being the paradigm in most of the developing world with limited resources. To investigate perceived differences in transfusion practice, a self-reported electronic survey was disseminated to eight US thalassemia treatment centers in February 2011. The survey was divided into sections ranging from laboratory and clinical practices to emerging transfusion-transmitted diseases. The survey response rate was 100%. The total number of transfused patients was 411. One-hundred percent of institutions used leukoreduced blood. No centers routinely provided cytomegalovirus-seronegative red blood cells (RBCs). Half the centers provided irradiated RBCs; only one routinely provided washed RBCs, and none transfused RBCs of defined storage age. Seventy-five percent of centers routinely phenotyped thalassemia patients' RBC antigens; 50% prophylactically matched for Rh and K antigens. The frequency of antibody investigations varied widely, and 25% of centers routinely medicated patients before transfusion. Eight thalassemia centers in the United States were surveyed to determine the uniformity of transfusion practice. The variability of the results was surprising. Consequently, we performed a literature review and propose an evidence-based protocol for routine transfusion therapy for patients with thalassemia.
    Transfusion 02/2014; · 3.53 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Our goal was to assess the natural fate of iron overload (IO) following transfusions of packed red blood cells (PRBCs) in children treated for cancer and nonmalignant disorders according to the intensity level of their treatment. Sixty-six children were followed up from February 2010 to March 2013. The transfusion burden was compared between three treatment intensity groups assigned according to the Intensity of Treatment Rating Scale 3.0 (ITR-3). IO was assessed by serial measurements of serum ferritin (SF) (n = 66) and quantification of tissue iron by magnetic resonance imaging (MRI) (n = 12). Of the children studied, 36 % (24/66) received moderately intensive treatment (level 2), 21 % (14/66) received very intensive treatment (level 3), and 42 % (28/66) received the most intensive treatment (level 4). The number of PRBC (p = 0.016), the total transfused volume (p = 0.026), and transfused volume adjusted to body weight (p = 0.004) were significantly higher in the level 4 group. By the median follow-up time of 35.5 months (range 8-133), 21-29 % of patients (including level 2 and level 3 children) had SF >1,000 μg/l 1 year after cessation of transfusions. The slowest decrease of SF was observed in the level 4 group. Initial MRI examination demonstrated either mild or moderate IO in the liver and spleen. Repetitive MRI showed significant improvement in relaxation time between the initial and follow-up MRI performances in the liver (5.9 vs. 8.6 ms, p = 0.03) and the spleen (4.3 vs. 8.8 ms, p = 0.03). Conclusion: IO diminished over time, but in the level 4 patients, it was detectable for years after cessation of transfusions.
    European Journal of Pediatrics 03/2014; · 1.91 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: To investigate the molecular basis of β -thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β -thalassemia mutations characterized, as well as the number of α -globin genes and Xmn I (G) γ -158 (C>T) polymorphism studied. Out of 14 β -thalassemia mutations identified, the four most common were IVS-I-6 (T>C) [33.3%], IVS-II-I (G>A) [21.1%], codon 82/83(-G) [10.1%], and codon 8 (-AA) [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild β -thalassemia alleles and the Xmn I polymorphism, while concomitant α -thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.
    BioMed research international. 01/2014; 2014:262853.