Arshad Muhammad Sohail, Hyder Syed Najam
Department of Paediatric Cardiology, Children Hospital Complex, Multan, Pakistan.
J Ayub Med Coll Abbottabad. 2009 Apr-Jun;21(2):37-41.
Thalassaemia represent one of the most common single gene disorder causing a major public health problem in Pakistan. Nearly 100,000 people are born worldwide with this severe blood disorder every year. Over the last 3 decades, the development of regular transfusion therapy and iron chelation has dramatically improved the quality of life and transformed thalassaemia from a rapidly fatal disease to a chronic disease compatible with prolonged survival. Objective of this observational cross sectional study was to determine the effects of chronic anaemia and transfusional iron overload on the left ventricular function using Doppler echocardiography.
This study was conducted in the Department of Paediatric Cardiology, The Children's Hospital & Institute of Child Health, Lahore, Pakistan from 1st April 2006 to 30th September 2007. The study comprised of 50 consecutive cases of beta-Thalassaemia major and 30 controls with normal haemoglobin and electrophoresis pattern. Beta-Thalassaemia major patients were diagnosed on the basis of haemoglobin electrophoresis. Patients with any congenital or acquired heart disease, concurrent infective disorder and with history of cardiac surgery were excluded from the study. 2-D, M-mode and Doppler echocardiography was performed in all the study cases and controls. Statistical comparison of study cases and controls was conducted by using unpaired t-test.
The age of the patients ranged from 2 years to 25 years with mean age of 9.65 years. Males were 34 (68%) and females were 16 (32%). None of the study cases was on regular chelation programme while 31 (62%) patients were on irregular chelation with single dose of intravenous desferrioxamine only at the time of blood transfusion. 19 (38%) of the patients had LV dysfunction in the form of isolated systolic dysfunction in 2 (4%), isolated diastolic dysfunction in 15 (30%) while global dysfunction in 2 (4%) of the patients. Left ventricular dimensions, stroke volume and E/A ratio were found considerably high in the study group.
A very high percentage of Thalassaemia patients have cardiac involvement as LV dysfunction. This is mainly due to chronic anaemia, poor compliance with chelation therapy and non-availability of proper cardiac monitoring. Regular assessment of cardiac function may help a lot to improve the quality of life of these patients and may reduce the morbidity and mortality to a great extent.
地中海贫血是最常见的单基因疾病之一，在巴基斯坦引发了重大的公共卫生问题。每年全球有近10万人出生时患有这种严重的血液疾病。在过去30年里，定期输血治疗和铁螯合疗法的发展显著改善了生活质量，使地中海贫血从一种快速致命的疾病转变为一种可长期存活的慢性病。本观察性横断面研究的目的是使用多普勒超声心动图确定慢性贫血和输血性铁过载对左心室功能的影响。
本研究于2006年4月1日至2007年9月30日在巴基斯坦拉合尔儿童医院及儿童健康研究所儿科心脏病学部进行。该研究包括50例连续的重型β地中海贫血病例和30例血红蛋白及电泳模式正常的对照。重型β地中海贫血患者根据血红蛋白电泳进行诊断。患有任何先天性或后天性心脏病、并发感染性疾病以及有心脏手术史的患者被排除在研究之外。对所有研究病例和对照进行二维、M型和多普勒超声心动图检查。使用不成对t检验对研究病例和对照进行统计学比较。
患者年龄范围为2岁至25岁，平均年龄为9.65岁。男性34例（68%），女性16例（32%）。没有研究病例接受常规螯合治疗，而31例（62%）患者接受不规则螯合治疗，仅在输血时单次静脉注射去铁胺。19例（38%）患者存在左心室功能障碍，表现为孤立性收缩功能障碍2例（4%）、孤立性舒张功能障碍15例（30%），2例（4%）患者存在全心功能障碍。研究组的左心室尺寸、每搏输出量和E/A比值明显较高。
很高比例的地中海贫血患者存在心脏受累，表现为左心室功能障碍。这主要是由于慢性贫血、螯合治疗依从性差以及缺乏适当的心脏监测。定期评估心脏功能可能有助于极大地改善这些患者的生活质量，并在很大程度上降低发病率和死亡率。
