Background and Aim: Cardiac complications due to Iron overload are the most common cause of death in B-thalassemicpatients. Although regular blood transfusions in thalassemia major(TM) patients have improved the quality oflife of the patients but the most important complication of such transfusions is iron overload in cardiac tissues. In spite of iron overload in untransfused thalassemia intermedia (TI) patients, the intestinal absorption of iron increases in these patients because of ineffective erythropoesis. The aim of this study was to evaluate cardiac status in thalassemia major and intermedia patients and the investigation of the possible effect of iron overload in the heart of B-thalassemicpatients.Material and Methods: 46 patients entered into this study. 26 patients had thalassemia major with regular blood and also chelator transfusions and 20 patients with thalassemia intermedia who had not received regular transfusions. The age' of the patients in the 2 groups were similar. The results of clinical evaluation and echocardiographies of the patients of the 2 groups were compared with each other. Collected data were analyzed by means of X2 and man whitney U tests.Results: Heart failure occurred in two patients with TM (9.52%) and one patient with TI (4.76%). Considerable pulmonary hypertension (systolic tricuspid gradien~ >35mmHg) was only present in 3 patients with TI (14.28%). But systolic dysfunction of left ventricle (ejection ftaction<55% or shortening ftaction<35%) occurred in 5 patients with TM (23.8%). In the patients without apparent heart disease, cardiac dimensions, LV mass, LV shortening and ejection ftactions, cardiac output and valvular involvement were significantly more in patients with TI. But the maximum speed of systolic flow out of mitral valve in primary phase was higher significantly in TM patients than TI patients.Conclusion: Regular lifelong transfusion and chelation therapy in TM patients prevents premature heart disease and pulmonary hypertension, but LV dysfunction can occur and lead to heart failure. In contrast in TI patients left ventricular function is normal but pulmonary hypertension occurs which may lead to heart failure. Left ventricular performance is better preserved when chelation treatment is adjusted to maintain the serum ferritin concentration at <1000 nglml.

Background and Objectives: Globin chain synthesis and DNA analysis are among complementary tests for thalassemia diagnosis. Nowadays, DNA analysis is the only definitive method for diagnosis of suspected carriers. Despite the complexity of this heterogenic disease which is attributed to mutations in gene regulation sites or unknown mutations, globin chain synthesis has maintained its significant role in identifying different kinds of thalassemia. As a result, besides the routine application of this method , we decided to determine the ranges of a/b ratio values in different kinds of thalassemia.Materials and Methods: In this experimental study 214 cases were divided into the control (51 cases), minor b thalassemia (24 cases), mild a (a thal. 2) thalassemia (68 cases), severe a (a thal. 1) thalassemia (44 cases), Hemoglobin H disease (6 cases), silent G ( type II) thalassemia (14 cases), db thalassemia (5 cases), and adb thalassemia (2 cases) groups. CBC, hemoglobin electrophoresis using acetate cellulose paper in alkaline pH, hemoglobin A2 measurement by column chromatography, reticulocytes percentage, hemoglobin H, RBC morphology, and globin chain synthesis were performed on each group.Results: Significant differences were observed in mean values of RBC, hemoglobin, hematocrite, MCV, MCH, MCHC, a/b ratio in F and G thalassemia cases as compared with the control group. High prevalence of a thalassemia was observed among suspected individuals (55.2% of different kinds of F thalassemia vs. 9.8% of different kinds of atypic b thalassemia) as compared with atypic b thalassemia.Conclusions: The mean value of a/b ratio achieved in this study was similar to the others, but with a greater standard deviation. Because of this, there exists a wider range of a/b ratio. This width of range made overlaps in different and adjacent groups. Therefore, a/b ratio cannot be used by itself to firmly diagnose the type of thalassemia. As a result, for accurate diagnosis to be made, besides considering patient's ethnicity and clinical features, it is necessary to assess the results of CBC, hemoglobin electrophoresis pattern analysis, globin chain synthesis, familial tests, and DNA analysis.

Cardiac disease is the main cause of death in both forms of thalassemia; thalassemia major (TM) and thalassemia intermedia (TI). Pulmonary hypertension (PH) is one of the cardiopulmonary morbidities with high mortality that, if not treated, may trigger right-sided heart failure and premature death. PH is defined as a mean pulmonary artery pressure of ≥ 25 mmHg at rest or ≥ 30 mmHg during exercise. The prevalence of PH is known to be higher in TI than in TM. Moreover, the pathophysiology of PH in thalassemia appears to be sophisticated and complex. Risk factors for occurrence of PH consists of non-transfusion dependent thalassemia (NTDT), sub-optimally transfused transfusion dependent thalassemia (TDT), splenectomy, thrombocytosis, anemia, NRBC ≥ 300 × 106, iron accumulation, history of thrombosis and older age. Other parameters which aggravate the risk of PH include hemolysis, oxidative stress, hypoxemia, alteration of erythrocyte membrane, decline of nitric oxide biological availability, arginine abnormal regulation and arginase excess. The screening method for PH is Doppler echocardiography but the gold standard for detection of PH is right heart catheterization (RHC). Current medical therapeutic options in PH comprise hydroxyurea, L-Carnitine, sildenafil, calcium channel antagonists, endothelin 1-receptor blockers and prostacyclin agonists. The only curative surgical method for the refractory and severe cases of PH is pulmonary endarterectomy. In this article, the etiology, pathophysiology, diagnostic methods and novel therapies of thalassemia associated PH are discussed.