Sonakul D, Thakerngpol K, Pacharee P
Department of Pathology, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Birth Defects Orig Artic Ser. 1988;23(5B):177-91.
Heart disease is a major cause of death in thal patients after the first decade of life. This study was carried out on autopsy material from 76 patients, six with beta-thal major, 58 with beta-thal/Hb E, and 12 with Hb H disease. Of the 58 patients with beta-thal/Hb E, which form the main group, all but one had cardiac hypertrophy, accompanied by dilatation in 17, five of ten patients with right ventricular and 14 of 25 patients with biventricular hypertrophy had chronic pulmonary thromboembolism. Iron deposition, while present in 18 patients, was very slight. Four patients had fibrinous pericarditis, two with diagnostic rheumatic heart disease; 15 patients had chronic pericarditis, with extensive fibrosis in half the cases. In comparison, the six patients with beta-thal major showed more severe cardiac changes, including more iron deposition. Of the 12 Hb H patients, two died of rheumatic heart disease, one had frank bilateral pulmonary embolism and striking right ventricular hypertrophy, while the remaining nine showed little cardiac pathology.
心脏病是地中海贫血患者10岁以后的主要死因。本研究对76例患者的尸检材料进行了分析,其中6例为重型β地中海贫血,58例为β地中海贫血/Hb E,12例为Hb H病。在构成主要研究组的58例β地中海贫血/Hb E患者中,除1例之外均有心脏肥大,其中17例伴有心脏扩张,10例右心室肥大患者中有5例,25例双心室肥大患者中有14例患有慢性肺血栓栓塞。18例患者存在铁沉积,但程度非常轻微。4例患者患有纤维素性心包炎,其中2例诊断为风湿性心脏病;15例患者患有慢性心包炎,半数病例伴有广泛纤维化。相比之下,6例重型β地中海贫血患者的心脏变化更为严重,包括更多的铁沉积。12例Hb H病患者中,2例死于风湿性心脏病,1例有明显的双侧肺栓塞和显著的右心室肥大,其余9例心脏病变轻微。