Graesdal J S, Gundersen K, Holm B, Waage A
Det medisinske fakultet Norges teknisk-naturvitenskapelige universitet Medisinsk teknisk forskningssenter 7005 Trondheim.
Tidsskr Nor Laegeforen. 2001 Feb 28;121(6):678-80.
Thalassemia is common in the Mediterranean countries, the Middle East, parts of India and South East Asia, with the prevalence of mutations reported to be 2.5-15%. Sickle-cell anaemia is endemic primarily in central parts of Africa, but it also appears in the thalassaemia areas. The purpose of this study was to establish the prevalence of beta-thalassaemia, alfa-thalassaemia and sickle-cell anaemia in Norway.
A questionnaire was sent to 149 departments of paediatrics, gynaecology and medicine in Norway. We asked for numbers registered in 1996 and 1997 of beta-thalassaemia and alfa-thalassaemia with subgroups, and sickle-cell anaemia.
The number of patients with thalassaemia was 44 (0.001%) in 1996 and 48 in 1997. In 1996 there were 28 patients with beta-thalassaemia minor, three with intermediary and five major, and six patients with alfa-thalassaemia minor and one with major. In 1996, ten patients were registered with sickle-cell anaemia; in 1997, fifteen patients.
The numbers of patients with thalassaemia major or sickle-cell anaemia probably reflect the true prevalence of these diseases. However, for thalassaemia minor and sickle-cell anaemia trait the numbers appear to be too low, as most of these patients do not contact a hospital. The appearance of these diseases in Norway is closely related to immigration from endemic areas.
地中海贫血在地中海国家、中东、印度部分地区和东南亚很常见，据报道突变患病率为2.5% - 15%。镰状细胞贫血主要流行于非洲中部地区，但在有地中海贫血的地区也有出现。本研究的目的是确定挪威β地中海贫血、α地中海贫血和镰状细胞贫血的患病率。
向挪威149个儿科、妇科和内科科室发送了一份调查问卷。我们询问了1996年和1997年登记的β地中海贫血和α地中海贫血各亚组以及镰状细胞贫血的病例数。
1996年地中海贫血患者有44例（0.001%），1997年有48例。1996年，有28例轻度β地中海贫血患者，3例中间型和5例重型患者，6例轻度α地中海贫血患者和1例重型患者。1996年，登记有10例镰状细胞贫血患者；1997年有15例。
重型地中海贫血或镰状细胞贫血患者的数量可能反映了这些疾病的真实患病率。然而，对于轻型地中海贫血和镰状细胞贫血特质，这个数字似乎过低，因为这些患者大多数没有就医。这些疾病在挪威的出现与来自流行地区的移民密切相关。
