RESUMO
AIM: This study was set up to determine whether or not retinal changes occur in sickle cell disease in Saudi Arabian subjects with either the Benin, which exists in the south western part of the kingdom, or Asian haplotypes in the east, and to compare the findings with those in sickle cell disease in Jamaica. METHODS: Retinal examination and fluorescein angiography were performed in 61 patients with SS disease (40 eastern, 20 south western, 1 central region) and 10 with sickle cell beta(0) thalassaemia. RESULTS: Peripheral retinal vascular changes were common, and a qualitatively abnormal vascular border believed to imply risk of proliferative sickle retinography (PSR) was significantly more common in south western SS patients and PSR was shown in one of these. There were no differences in visual acuity, the presence of peripheral retinal patches, or the circumferential or posterior extent of peripheral retinal vessel closure between SS disease and sickle cell beta(0) thalassaemia or between SS disease in the two regions. Compared with the Jamaican Cohort Study, > 180 degrees of the peripheral retinal vasculature was seen significantly less frequent, suggesting factors inhibiting vascular remodeling in Saudi patients in early life. CONCLUSION: Sickle cell disease in Saudi Arabia affects the retina and represents a potential threat to vision. Changes occur whatever the haplotype, and is similar to that observed in Jamaica.
Assuntos
Doenças Retinianas/patologia , Traço Falciforme/patologia , Adolescente , Adulto , Feminino , Angiofluoresceinografia , Haplótipos , Humanos , Jamaica , Masculino , Arábia Saudita , Traço Falciforme/genética , Talassemia beta/patologiaRESUMO
Avascular necrosis of the femoral head (ANFH) in Saudi patients with homozygous sickle cell (SS) disease attending King Faisal Specialist Hospital and Research Centre (KFSH&RC) occurred in 29/118 (24.6%) patients or 32% of patients aged 10 years and above. This high prevalence was heavily influenced by symptomatic selection. Contrary to observations in patients of African origin, ANFH in Saudi subjects was not associated with high hemoglobin, low fetal hemoglobin levels or with alpha thalassemia. Bone densitometry failed to detect differences in bone mineral density or content between patients with and without ANFH. Levels of 25-OH vitamin D did not differ between patients with and without ANFH. Several patients showed very rapid and complete destruction of the femoral head suggestive of osteomyelitis of the femoral head or a pyogenic arthritis. ANFH appears common in Saudi patients with SS disease although an accurate prevalence is unknown. The lack of relationship with risk factors for ANFH identified in African SS disease highlights the need for further study in the Saudi SS population.
RESUMO
The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. Four patients received bone marrow transplants (BMT) without prior myeloablative conditioning; transient osteoclast function was demonstrated in one of them. Sixty-five patients received myeloablative pretreatment. Recipients of a genotypically human leukocyte antigen (HLA)-identical BMT had an actuarial probability for 5-year survival, with osteoclast function, of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or one HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival, with osteoclast function, of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability for 5-year survival of only 13%. The main problems in haplotype-nonidentical BMT were graft failure and BMT-related complications such as sepsis, bleeding, and interstitial pneumonia. Osteoclast function developed in all patients with full engraftment. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. At the time of BMT, severe visual impairment was present in 35% of the patients; of the 15 patients who had visual impairment at the time that a successful BMT was performed, two had improvement after BMT (13%). Within the total group, one patient had neurodegeneration. Engraftment of healthy donor cells had no influence on the progression of that abnormality and BMT thus had no beneficial effect on this phenotype of osteopetrosis. In general, however, early BMT remains the only curative treatment for autosomal recessive osteopetrosis.
Assuntos
Transplante de Medula Óssea , Aberrações Cromossômicas/genética , Osteopetrose/genética , Osteopetrose/terapia , Análise Atuarial , Criança , Pré-Escolar , Transtornos Cromossômicos , Costa Rica , Europa (Continente) , Seguimentos , Genótipo , Antígenos HLA/genética , Haplótipos , Humanos , Lactente , Osteoclastos/fisiologia , Osteopetrose/imunologia , Osteopetrose/mortalidade , Osteopetrose/fisiopatologia , Fenótipo , Prognóstico , Estudos Retrospectivos , Arábia Saudita , Taxa de Sobrevida , Linfócitos T/imunologia , Resultado do TratamentoRESUMO
Haematological, clinical and some molecular genetic features have been compared in two groups of patients with homozygous sickle-cell (SS) disease in Saudi Arabia, 33 patients from the Eastern Province (eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian haplotype of DNA polymorphisms within the beta globin gene cluster whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had significantly more deletional alpha thalassaemia, higher levels of total haemoglobin and foetal haemoglobin, and lower of HBA, mean volume reticulocytes, and platelets. Clinically, Eastern patients had a greater persistence of splenomegaly, less dactylitis, less acute chest syndrome, a more normal body build and greater subscapular skin fold thickness. Painful crises occurred with equal frequency in both groups. Avascular necrosis of the femoral head was common in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe, consistent with the Benin haplotype suggesting an African origin (AU)