目的：了解中、重型β地中海贫血患者体内铁沉积状况。方法：对39例中、重型β地中海贫血患者的输血、排铁的情况进行统计，检测患者体内铁蛋白水平，并运用MRI T2*技术检测心脏及肝脏铁沉积状况。结果：患者血清铁蛋白水平最低为1500 ng/mL，最高达 11491 ng/mL。肝脏铁重度沉积者15例（38%），中度沉积者15例（38%），轻度沉积者7例（18%），正常者 2例（5%）。 心脏铁重度沉积者7例（18%），轻度沉积者5例（13%），正常者27例（69%）。1例出现心律紊乱症状，4例年龄超过20岁者均呈现性腺功能发育不全。大多患者因家庭经济原因未能进行规律输血及排铁治疗，且开始排铁时间较晚。患者血清铁蛋白水平与开始排铁的时间、剂量密切相关。结论：未进行早期规律的输血和排铁治疗的地中海贫血患者，体内铁的沉积发生年龄早，易早期出现重要器官的功能损害而引发相关并发症，应引起临床医师和患者家属的高度重视并制定相应的诊疗措施提高患者的生活质量。
Abstract
OBJECTIVE: To study the status of iron deposition in patients with β-thalassemia intermedia and major in mainland China. METHODS: The status of transfusion and chelation was examined in 39 patients with β-thalassemia intermedia or major. Serum ferritin levels were measured. MRI T2* technique was used to detect cardiac and hepatic iron deposition. RESULTS: Serum ferritin levels ranged from the minimum of 1500 ng/mL up to a maximum of 11491 ng/mL. From liver MRI T2* measurement, 15 cases had severe hepatic iron deposition (38%) and moderate deposition was found in 15 cases (38%), mild in 7 cases (18%), and normal in 2 cases (5%). Heart MRI T2* showed severe heart iron deposition in 7 cases (18%), mild in 5 cases (13%), and normal in 27 cases (69%). One case had cardiac arrhythmia. Four cases were over 20 years of age, and presented with gonadal function hypoplasia. The majority of patients did not receive regular transfusion and they had delayed, suboptimal chelation due to financial problems. Serum ferritin level was closely related with timing and dosage of chelation. CONCLUSIONS: In patients with β-thalassemia who do not receive early regular transfusion and iron chelation therapy, iron deposition may occur at an early age. Important organs and tissue functional lesions and related complications also result. Relevant agencies and family members should be aware of this trend and develop appropriate strategies to improve the medical condition and quality of life of patients with this disorder.
关键词
地中海贫血 /
MRI T2* /
铁沉积 /
儿童
Key words
Thalassemia /
MRI T2* /
Iron deposition /
Child
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参考文献
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