Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

2017 ◽  
Vol 137 (3) ◽  
pp. 175-182 ◽  
Author(s):  
Nikolaos Sousos ◽  
Despoina Adamidou ◽  
Philippos Klonizakis ◽  
Alexandra Agapidou ◽  
Stamatia Theodoridou ◽  
...  
Keyword(s):  
Middle Eastern ◽  
Thalassemia Major ◽  
Extramedullary Hematopoiesis ◽  
Biological Factor ◽  
Beta Thalassemia ◽  
Eastern Region ◽  
Hematopoietic Tissue ◽  
Multicenter Studies ◽  
Clinical Issue

Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study. In total, the study enrolled 104 patients. EMH was revealed in 15/104 (14%) patients. The presence of intravening sequence (IVS)-I-6 was significantly related with the development of EMH (p < 0.05). No other demographic or biological factor studied was found to be related with the presence of EMH. The study stresses a profound incidence of asymptomatic EMH in a solid group of well-transfused ΤΜ patients. Given the high incidence of the IVS-I-6 allele in the Mediterranean and Middle Eastern region, high-quality, prospective, multicenter studies could confirm the association of EMH occurrence with the presence of the IVS-I-6 mutation and further evaluate the exact role of this mutation in the EMH process.

scholarly journals Lumbosacral extradural extramedullary hematopoiesis in thalassemia major causing spinal canal stenosis

2020 ◽  
Vol 11 ◽  
pp. 331
Author(s):  
Sumatha Channapatna Suresh ◽  
Bharath Raju ◽  
Fareed Jumah ◽  
Anil Nanda
Keyword(s):  
Lower Extremity ◽  
Spinal Canal ◽  
Treatment Options ◽  
Thalassemia Major ◽  
Extramedullary Hematopoiesis ◽  
Spinal Canal Stenosis ◽  
Beta Thalassemia ◽  
Neurogenic Claudication ◽  
Hematopoietic Tissue ◽  
Canal Stenosis

Background: Extramedullary hematopoiesis (EH) is common in patients with ineffective erythropoiesis like thalassemia major (TM). EH commonly involves intra-abdominal organs (e.g., spleen and liver), but rarely involves vertebral bodies. Here, we reviewed images of EH contributing to spinal canal stenosis. Case Description: A 19-year-old male with beta-thalassemia major (TM) presented with pain and bilateral lower extremity neurogenic claudication. Bilaterally, on examination, he had positive straight leg raising to 30°, a loss of the Achilles responses, and decreased pain appreciation in the L5S1 distributions. The lumbar MR showed anterior epidural lobulated mass lesions at L5 and S1, contributing to marked canal stenosis. Following an L5/S1 laminectomy for decompression, the biopsy revealed extramedullary hematopoietic tissue. Conclusion: Patients presenting with the lower extremity symptoms/signs, ranging from low back pain to neurogenic claudication and even paraplegia, may have EH secondary to TM. Treatment options include hypertransfusion, local radiation therapy, and/or surgical decompression.

Iron Chelation, Blood Transfusion and Splenectomy Decreases Angiogenesis in Patients with Thalassemia Major

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5428-5428
Author(s):  
Duran Canatan ◽  
Seref Olgar ◽  
Aslihan Kara ◽  
Hicran Hicyilmaz ◽  
Nihal Balta
Keyword(s):  
Blood Transfusion ◽  
Iron Chelation ◽  
Thalassemia Major ◽  
Extramedullary Hematopoiesis ◽  
Control Group ◽  
Transfusion Rate ◽  
Transfusion Therapy ◽  
Cardiac Decompensation ◽  
Healthy Control

Abstract Introduction: Thalassemia major (TM) is an important cause of severe anemia that necessitates regular blood transfusion to prevent the profound weakness and cardiac decompensation caused by the anemia. However, iron overloading is an inevitable consequence of prolonged transfusion therapy. In addition, extramedullary hematopoiesis and hemosiderosis cause spleen, liver and marrow enlargement. In recent years the role of angiogenesis has been investigated in physiologic and pathologic conditions. However, it is known that angiogenetic factors, especially vascular endothelial growth factor (VEGF), cause differentiation of the hemangioblast. The role of angiogenesis has been investigated in different kinds of anemia, such as malignancy related anemia and sickle cell anemia. However, the role of angiogenesis has not been investigated in thalassemia major (TM) patients. In this study the angiogenesis was researched in thalassemic patients by serum VEGF measurement. Material and method: Forty-four consecutive patients with TM were included in this prospective study. TM patients’ findings were compared with those of a healthy control group (n=12). Blood samples were analyzed using commercially available ELISA kits for VEGF Results: VEGF levels were not affected by hemoglobin levels, ferritin levels, or chelation type (p&gt;0.05). However, VEGF was positively affected by chelation starting age and negatively affected by yearly blood transfusion rate (p&lt;0.05). In addition, VEGF of patients who underwent splenectomy was higher than those who didn’t undergo splenectomy (p&lt;0.05). In conclusion, VEGF causes differentiation of hemangioblasts, however, early starting transfusion age and regular blood transfusion decrease angiogenesis in thalassemic patients. The besides regular blood transfusion and effective chelation therapy, splenectomy decreases angiogenesis in this group of patients.

scholarly journals Nutritional Biomarkers in Children and Adolescents with Beta-Thalassemia-Major: An Egyptian Center Experience

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Laila M. Sherief ◽  
Sanaa M. Abd El-Salam ◽  
Naglaa M. Kamal ◽  
Osama El safy ◽  
Mohamed A. A. Almalky ◽  
...  
Keyword(s):  
Trace Elements ◽  
Folic Acid ◽  
Serum Zinc ◽  
Serum Levels ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Healthy Children ◽  
Multicenter Studies ◽  
Thalassemic Patient ◽  
Beta Thalassemia Major

Background and Aim. Trace elements and vitamins play a vital role in human body to perform its function properly. Thalassemic patients are at risk of micronutrient deficiency. This study estimated levels of vitamins A, C, E, B12, folic acid, total homocysteine (tHcy), and methylmalonic acid (MMA) along with trace elements, zinc, copper, and selenium in Beta-thalassemia-major patients.Methods. This study included 108 patients with Beta-thalassemia-major and 60 age and sex matched healthy children. Serum levels of vitamin A, E, C, tHcy, and MMA were estimated by high pressure liquid chromatography while serum levels of folic acid and B12 were estimated by thin layer chromatography. Serum zinc, copper, and selenium were determined by atomic absorption spectrometry.Results. There was a significant decrease of vitamins A, C, E, and B12 and trace elements zinc, copper, and selenium in thalassemic patients as compared to controls. tHcy and MMA were significantly elevated in patients. No significant correlations were found between the serum levels of the studied vitamins and trace elements as regards age, frequency of transfusion, duration of transfusion, and serum ferritin.Conclusion. The level of various nutritional biomarkers (vitamins A, C, E, and B12 and trace elements zinc, copper, selenium) was reduced in chronically transfused Egyptian thalassemic patient. These patients should have periodic nutritional evaluation and supplementation. Multicenter studies are highly recommended.

scholarly journals Atrial Fibrillation and Beta Thalassemia Major: The Predictive Role of the 12-lead Electrocardiogram Analysis

2014 ◽  
Vol 14 (3) ◽  
pp. 121-132 ◽  
Author(s):  
Vincenzo Russo ◽  
Anna Rago ◽  
Bruno Pannone ◽  
Maria Carolina Mayer ◽  
Anna Spasiano ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Predictive Role

Mediastinal extramedullary hematopoiesis in patient with beta-thalassemia major

2019 ◽  
Vol 152 (5) ◽  
pp. 207
Author(s):  
Pablo Manresa Manresa ◽  
Eva María Arranz Oliva ◽  
Francisco José Illán Gambín ◽  
Francisco Javier Lucas Boronat
Keyword(s):  
Thalassemia Major ◽  
Extramedullary Hematopoiesis ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major

scholarly journals The Role of Heart Rate Variability and Fragmented QRS for Determination of Subclinical Cardiac Involvement in Beta-Thalassemia Major

Pulse ◽  
2020 ◽  
Vol 8 (1-2) ◽  
pp. 15-20
Author(s):  
Mozhgan Parsaee ◽  
Amir Farjam Fazelifar ◽  
Elham Ansaripour ◽  
Azita Azarkeyvan ◽  
Behshid Ghadrdoost ◽  
...  
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Cardiac Involvement ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Fragmented Qrs ◽  
Beta Thalassemia Major
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