RESUMO
The clinical and hematologic features of sickle cell disease in two groups of patients of different ancestral origin, but living in the Eastern Province of Saudi Arabia, are presented. Twenty-eight patients of southwestern origin were matched for gender, age, and diagnosis with an equal number of patients of eastern origin. The disease was diagnosed in all patients at birth, and follow-up study was done on a regular basis. Despite being born and living in the same environment (Eastern Province), patients of southwestern origin had more severe clinical features, consistently lower hemoglobin levels, and higher reticulocyte counts, suggesting more severe hemolysis. We conclude that there are at least two distinct forms of sickle cell disease in the Eastern Province of Saudi Arabia and that the variability of the disease in early childhood is more likely related to genetic than to environmental factors.
Assuntos
Anemia Falciforme/epidemiologia , Fatores Etários , Anemia Falciforme/sangue , Anemia Falciforme/genética , Pré-Escolar , Contagem de Eritrócitos , Feminino , Hemoglobina Fetal/análise , Hemoglobinometria , Humanos , Lactente , Recém-Nascido , Masculino , Reticulócitos , Arábia Saudita , Fatores SexuaisRESUMO
Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population. Each of them has inherited one sickle cell gene on a chromosome characterized by an arrangement of restriction fragment length polymorphisms (haplotype) which is very rare in the Jamaican population. Genetic analysis of the family suggests that there is a determinant linked to the beta-globin gene cluster, characterized by this haplotype, which is responsible for increased haemoglobin F production in response to anaemia. Interestingly this particular haplotype appears to be common in patients with SS disease in eastern Saudi Arabia in whom a high level of haemoglobin F is the rule rather than the exception. Hence it is possible that this haplotype (++-++) acts as a genetic marker for elevated levels of haemoglobin F in sickle cell disease.
Assuntos
Anemia Falciforme/genética , Hemoglobina Fetal/genética , Marcadores Genéticos , Traço Falciforme/genética , Feminino , Haploidia , Humanos , Jamaica , Masculino , Linhagem , Arábia SauditaRESUMO
Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population. Each of them has inherited one sickle cell gene on a chromosome characterized by an arrangement of restriction fragment length polymorphisms (haplotype) which is very rare in the Jamaican population. Genetic analysis of the family suggests that there is a determinant linked to the á-globin gene cluster, charaterized by this haplotype, which is responsible for increased haemoglobin F production in response to anaemia. Interestingly this particular haplotype appears to be common in patients with SS disease in eastern Saudi Arabia in whom a high level of haemoglobin F is the rule rather than the exception. Hence it is possible that this haplotype (++-++) acts as a genetic marker for elevated levels of haemoglobin F in sickle cell disease (AU)
Assuntos
Humanos , Masculino , Feminino , Anemia Falciforme/genética , Hemoglobina Fetal/genética , Marcadores Genéticos , Traço Falciforme/genética , Haploidia , Jamaica , Linhagem , Arábia SauditaRESUMO
Neonatal screening for sickle cell disease has been established in three hospitals in the Eastern Province of Saudi Arabia. In the first 17 months of this programme, 5630 cord blood samples were screened with the detection of 47 babies with an FS phenotype. The sickle cell trait occurred in 4.4 percent births at Al Khobar, in 6.7 percent in Dammam and in 17.9 percent in Qatif. An apparent excess of the FS phenotype over that predicted from the observed S gene frequency occurred at all three centres. The cause of this excess remains unknown although a high prevalence of sickle cell-beta-o thalassaemia and the effects of non-random mating may be contributory factors. (Summary)