title: Clinical and laboratory features of sickle cell disease in The Netherlands.
abstract: 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)
authors: Unit of Infectious Diseases and Tropical Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
authors: J R
authors: JR
authors: Aluoch
authors: A
authors: A
authors: De Geus
authors: R
authors: R
authors: Goudsmit
mesh_terms: D000293:Adolescent; D000328:Adult; D000349:Africa / Q000208:ethnology; D000368:Aged; D000755:Anemia, Sickle Cell / Q000150:complications / Q000453:epidemiology* / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005914:Globins / Q000235:genetics; D006445:Hemoglobin C Disease / Q000150:complications / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009426:Netherlands; D013789:Thalassemia / Q000150:complications / Q000453:epidemiology; D014421:Turkey / Q000208:ethnology; D014900:West Indies / Q000208:ethnology
chemical_list: D005914:Globins