• 대한임상검사과학회지
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• 제49권4호
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• pp.495-497
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• 2017

Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

• Parasites, Hosts and Diseases
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• 제56권2호
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• pp.167-173
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• 2018

Malaria is one of the most important public health problems in tropical areas on the globe. Several factors are associated with susceptibility to malaria and disease severity, including innate immunity such as blood group, hemoglobinopathy, and heme oxygenase-1 (HO-1) polymorphisms. This study was carried out to investigate association among ABO blood group, thalassemia types and HO-1 polymorphisms in malaria. The malarial blood samples were collected from patients along the Thai-Myanmar border. Determination of ABO blood group, thalassemia variants, and HO-1 polymorphisms were performed using agglutination test, low pressure liquid chromatography and polymerase chain reaction, respectively. Plasmodium vivax was the major infected malaria species in the study samples. Distribution of ABO blood type in the malaria-infected samples was similar to that in healthy subjects, of which blood type O being most prevalent. Association between blood group A and decreased risk of severe malaria was significant. Six thalassemia types (30%) were detected, i.e., hemoglobin E (HbE), ${\beta}$-thalassemia, ${\alpha}$-thalassemia 1, ${\alpha}$-thalassemia 2, HbE with ${\alpha}$-thalassemia 2, and ${\beta}$-thalassemia with ${\alpha}$-thalassemia 2. Malaria infected samples without thalassemia showed significantly higher risk to severe malaria. The prevalence of HO-1 polymorphisms, S/S, S/L and L/L were 25, 62, and 13%, respectively. Further study with larger sample size is required to confirm the impact of these 3 host genetic factors in malaria patients.

• Clinical and Experimental Pediatrics
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• 제63권8호
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• pp.314-320
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• 2020

Background: The accumulation of unpaired α-globin chains in patients with β-thalassemia major may clinically create ineffective erythropoiesis, hemolysis, and chronic anemia. Multiple blood transfusions and iron overload cause cellular oxidative damage. However, α-tocopherol, an antioxidant, is a potent scavenger of lipid radicals in the membranes of red blood cells (RBCs) of patients with β-thalassemia major. Purpose: To evaluate the effects of α-tocopherol on hemolysis and oxidative stress markers on the RBC membranes of patients with β-thalassemia major. Methods: Forty subjects included in this randomized controlled trial were allocated to the placebo and α-tocopherol groups. Doses of α-tocopherol were based on Institute of Medicine recommendations: 4-8 years old, 200 mg/day; 9-13 years old, 400 mg/day; 14-18 years old, 600 mg/day. Hemolysis, oxidative stress, and antioxidant variables were evaluated before and after 4-week α-tocopherol or placebo treatment, performed before blood transfusions. Results: Significant enhancements in plasma haptoglobin were noted in the α-tocopherol group (3.01 mg/dL; range, 0.60-42.42 mg/dL; P=0.021). However, there was no significant intergroup difference in osmotic fragility test results; hemopexin, malondialdehyde, reduced glutathione (GSH), or oxidized glutathione (GSSG) levels; or GSH/GSSG ratio. Conclusion: Use of α-tocopherol could indirectly improve hemolysis and haptoglobin levels. However, it played no significant role in oxidative stress or as an endogen antioxidant marker in β-thalassemia major.

• 대한임상검사과학회지
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• 제52권2호
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• pp.98-104
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• 2020

Thalassemias are considered important health issues throughout Iraq, involving its Kurdistan region. This disorder, particularly its major form, needs lifelong regular transfusions. But this form of medical care is associated with various complications including red cell alloimmunization and autoimmunization. This study determined the frequency and associations of alloimmunization among multi-transfused patients with β-thalassemia major. The subjects were 204 patients who were registered at a thalassemia care center in Sulaymaniyah-Iraqi Kurdistan. The patients' records were analyzed, their red cells were phenotyped for ABO/RhD antigens using the gel card method, and irregular antibody screening/identification was performed using the standard tube method. Alloantibodies were detected in 5.8% of the patients, while DAT was positive in 4% of the patients, which indicated autoantibodies. The identified alloantibodies were anti-E (2.4%), anti-C (1.4%), anti-e (1%), and anti-K (1%). A patient's age at the start of transfusion (>2 years) (P=0.042) and a positive history of transfusion reactions (P=0.003) were correlated with a significantly higher rate of alloantibody formation. From the results of our study, we conclude that measures to decrease the development of alloantibodies may incorporate matching for Rhesus and Kell systems and early induction of blood transfusions.

• Advances in Traditional Medicine
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• 제7권5호
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• pp.466-476
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• 2008

We have developed the tablet formulation of Triticum aestivum (wheatgrass) and investigated clinically, its effects in patients suffering from b-thalassemia (major) at K. T. Children Hospital, Civil Hospital, Rajkot. The tablets (wheatgrass powder 250 mg.) were given 3 times in a day for 9 months. Blood samples were collected at the start, after 6 months and 9 months and analyzed for various biochemical and hematological parameters. Treatment with wheatgrass formulation for 9 months produced significant decrease in hemoglobin, total RBC, eosinophil and reticulocyte counts. The mean corpuscular volume (MCV) and mean corpuscular hemoglobin concentration (MCHC) were significantly increased was significantly increased. The serum ferritin was also significantly decreased. There was no influence on serum magnesium, serum iron and Thiobarbituric acid reacting substances (TBARS). Our data indicate that treatment with wheatgrass on patients with $\beta$-thalassemia (major) may have beneficial effects in the form of a decrease in ineffective erythropoiesis, stimulation of hemoglobin synthesis in RBC, decrease in iron load and decrease in eosinophil count.