Higher numbers of NTDT patients are diagnosed and more fetuses with severe thalassemia are terminated. In our region, the proportion of patients classified by thalassemia type is changing due to advances in prenatal diagnoses and early detection. One of the most serious complications in NTDT is pulmonary hypertension which can be found in 11–50% of patients and leads to heart failure the most common cause of death in NTDT patients. Several complications that are associated with thalassemia intermedia are less frequently seen in thalassemia major, including EMH, leg ulcers, gallstones, and thrombophilia. According to the largest observational study on thalassemia intermedia (OPTIMAL CARE study n = 584 TI patients), the three most common complications were osteoporosis, extramedullary hematopoiesis (EMH), and hypogonadism, respectively. Complications of NTDT result from chronic hemolysis and tissue hypoxia, causing iron overload and problems in many organ systems. Generally patients with NTDT can maintain hemoglobin levels at 6–10 g/dL with occasional blood transfusions that may be required with fever, infection, or pregnancy. The terminology has been changed from TI to NTDT. This group of thalassemia patients was recognized earlier as a TI but no consensus on diagnostic criteria has been reached due to high clinical variations ranging from asymptomatic to multiorgan involvement.
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Nontransfusion dependent thalassemia (NTDT) or thalassemia intermedia (TI) is a milder form of thalassemia which does not require regular blood transfusion for survival. Thalassemia originates from varying genetic abnormalities that result in different clinical presentation. Patients with thalassemia suffer from chronic hemolytic anemia and its sequelae. Thalassemia is a well-known inherited hematologic disorder caused by a decrease or an absence of globin production. The prevalence of alpha-NTDT complications was lower and different from beta-thalassemia. Iron overload (ferritin > 800 ng/mL) was the only risk factor for abnormal liver function. The risk factors significantly related to EMH were beta-thalassemia type and hemoglobin 40 years. Osteoporosis was the only complication that was more common in alpha-thalassemia. EMH, cardiomyopathy, cholelithiasis, and pulmonary hypertension were more commonly seen in beta-thalassemia. The three most common complications were cholelithiasis (35%), abnormal liver function (29%), and extramedullary hematopoiesis (EMH) (25%). Overall, 83 patients had one or more complications. The majority (54 patients) had alpha-thalassemia.
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One hundred patients included 60 females with a median age of 38 years. Complications related to thalassemia were reviewed and compared. We retrospectively reviewed the medical records of NTDT patients from January 2012 to December 2013. Currently available information is mostly derived from beta-NTDT consequently, more data is needed to describe complications found in the alpha-NTDT form of this disease. It is associated with many complications, which differ from that found in transfusion-dependent thalassemia (TDT). Nontransfusion dependent thalassemia (NTDT) is a milder form of thalassemia that does not require regular transfusion.