[Acute chest syndrome in adult sickle cell patients]. / Syndrome thoracique aigu chez les patients drépanocytaires adultes.

Sickle cell disease is a frequent genetic condition, due to a mutation of the ß-globin gene, leading to the production of an abnormal S hemoglobin and characterized by multiple vaso-occlusive events. The acute chest syndrome is a severe complication associated with a significant disability and mortality. It is defined by the association of one or more clinical respiratory manifestations and a new infiltrate on lung imaging. Its pathophysiology is complex and implies vaso-occlusive phenomena (pulmonary vascular thrombosis, fat embolism), infection, and alveolar hypoventilation. S/S or S/ß0-thalassemia genotype, a history of vaso-occlusive crisis or acute chest syndrome, a low F hemoglobin level (<5%), a high steady-state hemoglobin level (> 10 g/dL), or a high steady-state leukocytosis (>10 G/L) are the main risk factors. Febrile chest pain, dyspnea, sometimes cough with expectorations are its main clinical manifestations, and bi-basal crackles are found at auscultation. Inferior alveolar opacities with or without pleural effusions are identified on chest X-ray or CT-scan. Management of the acute chest syndrome should be prompt and implies, besides the recognition of severity signs, a multimodal analgesia, oxygen supplementation, sometimes a parenteral antibiotic treatment and the frequent use of blood transfusions especially in the most severe cases. Prevention is important and includes a regular monitoring of hospitalized patients and the use of incentive spirometry.

Determination of ß haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil.

ß(S) haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

Determination of beta S haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5 percent) were identified with genotype CAR/CAR, 9 (19.1 percent) CAR/BEN, 6 (12.8 percent) CAR/CAM, 1 (2.1 percent) BEN/BEN, 2 (4.3 percent) CAR/Atp, 1 (2.1 percent) BEN/Atp and 1 (2.1 percent) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

Triagem da hemoglobina S em pacientes atendidos pelo Marcos Daniel Laboratório em Vitória, ES: [carta ao editor] / Detection of hemoglobin S in patients from Marcos Daniel Laboratorio, Vitoria, ES: [letter to editor]

According to the World Health Organization, 270 million people throughout the world carry genes which determine the presence of abnormal hemoglobin. In Brazil, there are about 10 million heterozygotes for hemoglobin S (Hb S), hemoglobin C (Hb C) and beta thalassemia (b-Thal), which, together with Hb D Punjab or Hb D Los Angeles, represent the group of the most important abnormal hemoglobins in clinical terms. Hb S and Hb C entered this country with the slave trade, while thalassemias are more common among Mediterranean populations, who make up a large percentage of the immigrant population in Brazil. Thus, the mixture among these people has favored the spread of abnormal genes in Brazil, mainly those which cause sickle cell trait and thalassemias. The population of the state of Espirito Santo is of diversified ethnic origin due to the slave trade and the subsequent arrival of Europeans, North Americans, Syrians, and Lebanese from 1847 to1940. There is still very little or no information that might confirm the prevalence of abnormal hemoglobins among the population of the state of Espirito Santo. This lack of information is worrying, since the prevalence of abnormal hemoglobins is a significant fact throughout Brazil, and, therefore, a matter of public health. This research aimed at detecting the presence of Hb S in patients tested in Marcos Daniel Laboratory facilities located in the towns of Vitoria, Vila Velha, Serra, and Cariacica, state of Espirito Santo. On 28th October 2006, blood samples of 150 patients from these laboratories were submitted to electrophoresis in an alkaline pH medium. The samples analyzed had been selected, at random, from the routine service of the previous day regardless of gender, age and race of the subjects. The presence of abnormal hemoglobins was detected in 2% of the samples. Among them, 1.33% presented the AS and 0.7%, the AC phenotypes.