Pearson H A, Cohen A R, Giardina P J, Kazazian H H
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.
Pediatrics. 1996 Mar;97(3):352-6.
The age of patients with homozygous beta-thalassemia is increasing because of better treatment and decreased births. A countering influence is immigration of ethnic groups with a high prevalence of thalassemia.
a questionnaire sent to 48 North American centers requested information about current patients with homozygous beta-thalassemia: age, clinical severity, and ethnicity. An 83% response was obtained. Twelve reference hospitals that participated in similar surveys in 1972 and 1984 were included.
Five hundred eighteen patients with homozygous beta-thalassemia represent most North American patients. Four hundred forty-three (86%) of these had transfusion-dependent thalassemia major (TM); 75 (14%) had thalassemia intermedia (TI). Sixty-two percent were of Greek and Italian ancestry. There were approximately equal numbers of patients with TM in 5-year intervals between 0 and 25 years of age. Thereafter, the numbers of patients fell sharply. The mean age (+/- SD) of the patients with TM was 16.1 +/- 9.2 years. Striking differences were seen in Italian and Greek patients compared with those of other ancestries. Sixty-six percent of the 271 Italian and Greek patients with TM were older than 16 years of age, whereas 77% of the 172 patients of other ethnic groups with TM were younger than 15 years of age. The mean age of the 75 patients with TI was greater than that of the patients with TM. Seventy-three percent of African-American patients had TI, compared with 0% of Southeastern Asian patients. Comparisons of patients with TM from the 12 reference hospitals for two decades show increasing mean ages of TM patients (1973, 11.4 +/- 6.7 years; 1985, 14/2 +/- 7.3 years; and 1993, 16.1 +/- 9.2 years).
There are probably only 750 to 1000 patients with homozygous beta-thalassemia in North America. Only about 15 to 20 new cases are diagnosed each year. The increasing mean age and age distribution indicate that modern therapies are effective, but immigration of non-Mediterranean ethnic groups with thalassemia has resulted in more, younger patients. TM is increasingly becoming a disease of young adults.
由于治疗水平提高和出生率下降，纯合子β地中海贫血患者的年龄正在增加。一个相反的影响因素是地中海贫血患病率较高的族群的移民。
向48个北美中心发送了一份调查问卷，询问有关当前纯合子β地中海贫血患者的信息：年龄、临床严重程度和种族。获得了83%的回复率。纳入了1972年和1984年参与类似调查的12家参考医院。
518例纯合子β地中海贫血患者代表了大多数北美患者。其中443例（86%）患有输血依赖型重型地中海贫血（TM）；75例（14%）患有中间型地中海贫血（TI）。62%患者有希腊和意大利血统。0至25岁之间，每5年的TM患者数量大致相等。此后，患者数量急剧下降。TM患者的平均年龄（±标准差）为16.1±9.2岁。与其他血统的患者相比，意大利和希腊患者存在显著差异。271例意大利和希腊TM患者中，66%年龄超过16岁，而172例其他种族TM患者中，77%年龄小于15岁。75例TI患者的平均年龄大于TM患者。73%的非裔美国患者患有TI，而东南亚患者中这一比例为0%。对12家参考医院20年来TM患者的比较显示，TM患者的平均年龄在增加（1973年，11.4±6.7岁；1985年，14.2±7.3岁；1993年，16.1±9.2岁）。
北美可能只有750至1000例纯合子β地中海贫血患者。每年仅约15至20例新病例被诊断。平均年龄和年龄分布的增加表明现代疗法是有效的，但携带地中海贫血的非地中海族群的移民导致了更多更年轻的患者。TM越来越成为一种年轻人的疾病。
