Li Chang-Gang, Liu Si-Xi, Mai Hui-Rong, Wang Ying, Wen Fei-Qiu, Liu Ri-Yang, Zhang Xin-Hua, Chu Winnie Chiu Wing, Au Wing-Yan
Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2012 Feb;14(2):110-3.
To study the status of iron deposition in patients with β-thalassemia intermedia and major in mainland China.
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.
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.
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.
研究中国内地中间型和重型β地中海贫血患者的铁沉积状况。
对39例中间型或重型β地中海贫血患者的输血和螯合治疗状况进行检查。检测血清铁蛋白水平。采用MRI T2*技术检测心脏和肝脏的铁沉积情况。
血清铁蛋白水平最低为1500 ng/mL，最高达11491 ng/mL。肝脏MRI T2测量结果显示，15例患者有严重肝脏铁沉积（38%），15例有中度沉积（38%），7例有轻度沉积（18%），2例正常（5%）。心脏MRI T2显示，7例患者有严重心脏铁沉积（18%），5例有轻度沉积（13%），27例正常（69%）。1例患者出现心律失常。4例年龄超过20岁，表现为性腺功能发育不全。大多数患者未接受正规输血，且因经济问题螯合治疗延迟、效果欠佳。血清铁蛋白水平与螯合治疗的时机和剂量密切相关。
未接受早期正规输血和铁螯合治疗的β地中海贫血患者，铁沉积可能在早年就会发生。重要器官和组织出现功能性病变及相关并发症。相关机构和家庭成员应意识到这种趋势，并制定适当策略以改善这类患者的病情和生活质量。
