Total management of thalassaemia major.
Total management of thalassaemia major.
复制标题
重型地中海贫血的全面管理。
DOI：
10.1136/adc.52.6.489
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发表时间：
1977
影响因子：
5.2
通讯作者：
B. Modell
中科院分区：
文献类型：
--
作者：
B. Modell
重型β地中海贫血是一种严重的儿童贫血，遗传为孟德尔隐性遗传;杂合子（携带者）形式的条件是地中海贫血或地中海贫血性状。纯合子型疾病，重型地中海贫血，是由于合成成人血红蛋白B链的能力缺陷，导致严重无效的红细胞生成和贫血，输血是唯一的治疗方法。虽然随着管理的进步，预后正在稳步改善，但它仍然被普遍认为是一种致命的疾病。Weatherall和Clegg（1972年）对地中海贫血的遗传学和生物化学进行了全面综述。本文仅限于纯合子，B-地中海贫血及其管理，在英国观察到的临床方面。英国现在大约有300名重型地中海贫血病患者，大多数年龄在17岁以下，因为他们是新移民的后代，每年大约有13人出生。在塞浦路斯人中，β 1-地中海贫血性状的发生率为15 - 18%（Banton，1951; Modell等人，1972; Ashiotis等人，1973; C. Bate，个人通讯），重型地中海贫血的发病率至少为每1000名活产5人。因此，英国约60%的重型地中海贫血病患者是塞浦路斯血统的儿童也就不足为奇了：30%是来自印度次大陆西北部的移民，不到10%来自意大利和中国。在英国，大多数患者患有fl型地中海贫血：B°地中海贫血患者的临床表现可能在几个重要方面与本文所述不同（C. Vullo，personal communication）.一般由当地医院的儿科医生管理，在众多儿科医生和血液科医生的合作下，通过研究许多病人的记录，对这个问题进行了部分调查。
Beta-thalassaemia major is a severe anaemia of childhood which is inherited as a mendelian recessive; the heterozygous (carrier) form of the condition is thalassaemia minor or thalassaemia trait. The homozygous disease, thalassaemia major, is due to defective ability to synthesize the ,B-chains of adult haemoglobin, which leads to gross ineffective erythropoiesis and anaemia for which blood transfusion is the only treatment. Though the prognosis is improving steadily with advances in management, it is still generally considered a fatal disease. The genetics and biochemistry of the thalassaemias have been fully reviewed by Weatherall and Clegg (1972). This article is confined to the clinical aspects of homozygous ,B-thalassaemia and its management, as observed in Britain. There are now about 300 patients with thalassaemia major in Britain, mostly under 17 years of age because they are the offspring of recent immigrants, and about 13 more are born every year. Among Cypriots the incidence of fl-thalassaemia trait is 15 to 18% (Banton, 1951; Modell et al., 1972; Ashiotis et al., 1973; C. Bate, personal communication), and the incidence of thalassaemia major is at least 5 per 1000 live births. It is therefore not surprising that about 60% of patients with thalassaemia major in Britain are children of Cypriot origin: 30% are immigrants originally from the north-western part of the Indian subcontinent, and less than 10% are from Italy and China. The majority of patients in Britain have the fl type of thalassaemia: the clinical picture of patients with ,B° thalassaemia may differ in several significant ways from that described here (C. Vullo, personal communication). They are generally managed by the paediatrician at the local hospital, and a partial survey of the problem has been achieved by studying the notes of many patients, with the co-operation of numerous paediatricians and haematologists.