Aluoch J R, De Geus A, Goudsmit R
Unit of Infectious Diseases and Tropical Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
Trop Geogr Med. 1988 Jan;40(1):7-12.
Out of about 200 patients with sickle cell disease (SCD) in the Netherlands, 6% are non-negroid patients from Turkey. 83 were assessed clinico-haematologically regarding the type of SCD, ethnic origin, concurrent alpha-thalassaemia (alpha-thal), and type of sickle cell gene (beta S-chromosome). 54 patients had homozygous sickle cell (SS), 1 sickle cell haemoglobin D (SD) Punjab, 5 sickle cell beta o-thalassaemia (S beta o-thal), 5 sickle cell beta +-thalassaemia (S beta +-thal) and 18 sickle cell haemoglobin C (SC) disease. 14% of the 83 patients were from Turkey, the others were of West Indian and African origin, most (73%) of whom were from Surinam. The Netherlands may be the only country in the world where non-negroid SCD patients are present in such a proportion to negroid SCD patients. alpha-thal was detected in 16 patients and in 14 of their relatives with sickle cell trait. Four main types of beta S-chromosomes were identified: Benin, Central African Republic, Senegal and Saudi Arabia types. SS and S beta o-thal disease ran a more severe course than S beta +-thal and SC disease. No clinical difference was ascribable to ethnic origin, alpha-thal or HbF-level but in each ethnic group there were some patients with a remarkably mild course of SS disease, which was related to the type of beta S-chromosome. These were the Senegal and Saudi Arabia beta S-chromosomes. Proper differentiation between genotypes is of prognostic and therapeutic relevance, especially in SC disease as it is sometimes discovered too late.(ABSTRACT TRUNCATED AT 250 WORDS)
在荷兰约200例镰状细胞病（SCD）患者中，6%为来自土耳其的非黑人患者。对83例患者进行了临床血液学评估，内容包括SCD类型、种族起源、合并的α地中海贫血（α-地贫）以及镰状细胞基因类型（βS染色体）。54例患者为纯合子镰状细胞（SS），1例为镰状细胞血红蛋白D（SD）旁遮普型，5例为镰状细胞β0地中海贫血（Sβ0地贫），5例为镰状细胞β+地中海贫血（Sβ+地贫），18例为镰状细胞血红蛋白C（SC）病。83例患者中14%来自土耳其，其他患者为西印度和非洲裔，其中大多数（73%）来自苏里南。荷兰可能是世界上唯一一个非黑人SCD患者与黑人SCD患者比例如此之高的国家。在16例患者及其14例携带镰状细胞性状的亲属中检测到α-地贫。鉴定出四种主要的βS染色体类型：贝宁型、中非共和国型、塞内加尔型和沙特阿拉伯型。SS和Sβ0地贫的病程比Sβ+地贫和SC病更严重。种族起源、α-地贫或HbF水平与临床差异无关，但在每个种族群体中都有一些SS病病程明显较轻的患者，这与βS染色体类型有关。这些是塞内加尔和沙特阿拉伯的βS染色体。正确区分基因型具有预后和治疗意义，特别是在SC病中，因为有时发现得太晚。（摘要截选至250字）
