Cardiac abnormalities in patients with beta thalassemia

Sambhaji C. Chate


Background: Thalaseemias are a group of chronic, inherited anemias characterized by defective hemoglobin synthesis and ineffective erythropoiesis. The presence of chronic anemia and transfusional iron overload exacerbates congestive cardiac failure. Cardiac disease remains the major cause of death in thalassemia major. The objective was to assess cardiac status in patients with transfusion dependent thalassemia.

Methods: A prospective observational study was conducted at thalassemia Centre in tertiary care institute. 32 patients with transfusion dependent beta thalassemia were enrolled. A detailed history, clinical examination and cardiac investigations were conducted in enrolled patients.

Results: Symptoms and signs of cardiac disease were present in 5 (15.6%) patients. Cardiomegaly was observed on chest radiography in 23 (71.87%) patients. Only 3 (9.37%) patients had electrocardiographic abnormalities. Left Ventricular Ejection Fraction (LVEF) on 2-D echocardiography was ≥60% in all the 32 patients. Diastolic dysfunction and restrictive physiology on Doppler echocardiography was present in 19 (59.37%) patients and absent in remaining 13 (40.63%) patients.

Conclusions: Diastolic dysfunction is an early sign of myocardial dysfunction in patients with beta thalassemia.


Diastolic dysfunction, Cardiomegaly, Thalassemia

Full Text:



Weatherall DJ, Clegg JB. Thalassemia-a global public health problem. Nature Med. 1996;3:47-9.

Borgna-Pignatti C, Cappellini MD, De Stefano P, Del Vecchio GC, Forni GL, Gamberini MR, et al. Survival and complications in thalassemia. Ann N Y Acad Sci. 2005;1054:40-7.

Caro JJ, Ward A, Green TC, Huybrechts K, Arana A, Wait S, et al. Impact of thalassemia major on patients and their families acta. Haematologica. 2002;107:150-7.

Aessopos A, Farmakis D, Hatziliami A, Fragodimitri C, Karabatsos F, Joussef J, et al. Cardiac status in well- treated patients with thalassemia major. Eur J Haematol. 2004;73:359-66.

Engle MA, Erlandson M, Smith CH. Late cardiac complications of chronic, refractory anemia with hemochromatosis. Circulation. 1964;30:698-705.

Borgna-Pignatti C, Rugolotto S, De Stefano P, Piga A, Di Gregorio F, Gamberini MR, et al. Survival and disease complications in thalassemia major. Ann N Y Acad Sci. 1998;850:227-31.

Ehlers KH, Levin AR, Markenson AL, Marcus JR, Klein AA, Hilgartner MW, et al. Longitudinal study of cardiac function in thalassemia major. Ann N Y Acad Sci. 1980;344:397-404.

Zurlo MG, De Stefano P, Borgna-Pignatti C, Di Palma A, Piga A, et al. Survival and causes of death in thalassaemia major. Lancet. 1989;2:27-30.

Kremastinos DT, Tsetsos GA, Tsiapras DP, Karavolias GK, Ladis VA, Kattamis CA. Heart failure in beta thalassemia: a 5-year follow-up study. Am J Med. 2001;111:349-54.

Olivieri NF, Nathan DG, MacMillan JH, Wayne AS, Liu PP, McGee A, et al. Survival in medically treated patients with homozygous beta-thalassemia. N Engl J Med. 1994;331:574-8.

Mancuso L, Mancuso A, Bevacqua E, Rigano P. Electrocardiographic abnormalities in thalassemia patients with heart failure. Cardiovasc Hematol Disord Drug Targets. 2009;9(1):29-35.

Hou JW. Prognostic significance of left ventricular diastolic indexes in beta-thalassemia major. Arch Pediatr Adolesc Med. 1994;148:862-6.

Hankins J, Hillenbrand C, Joshi V, Loeffler R, Song R, Ware R, et al. Cardiac T2* Magnetic Resonance Imaging (MRI) in Iron Overload and Ventricular Diastolic Function Blood. ASH Annual Meeting Abstracts. 2007;110: 2676.

Spirito P. Restrictive diastolic abnormalities identified by Doppler echocardiography in patients with thalassemia major. Circulation. 1990;82:88-94.

Kremastinos DT. Left ventricular diastolic Doppler characteristics in beta-thalassemia major. Circulation. 1993;88:1127-35.

Iarussi D. Pulsed Doppler tissue imaging and myocardial function in thalassemia major. Heart Vessels. 2003;18:1-6.

Leonardi B, Margossian R, Colan SD, Powell AJ. Relationship of Magnetic Resonance Imaging Estimation of Myocardial Iron to Left Ventricular Systolic and Diastolic Function in Thalassemia. J Am Coll cardiol Img. 2008;1:572-8.

Aessopos A, Deftereos S, Tsironi M, Karabatsos F, Yousef J, Fragodimitri C, et al. Predictive echo-Doppler indices of left ventricular impairment in B-thalassemic patients. Ann Hematol. 2007;86:429-34.

Leon MB, Borer JS, Bacharach SL, Green MV, Benz EJ Jr, Griffith P, et al. Detection of early cardiac dysfunction in patients with severe beta-thalassemia and chronic iron overload. N Engl J Med. 1979;301:1143-8.

Vogel M, Holden S, Deanfield JE, Pennell DJ, Walker JM. Tissue Doppler echocardiography in patients with thalassemia detects early myocardial dysfunction related to myocardial iron overload. Eur Heart J. 2003;24(1):113-9.