The influence of hydroxyurea on oxidative stress in sickle cell anemia

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Análise quantitativa e molecular de hemoglobina fetal em indivíduos da população brasileira

A hemoglobina fetal - Hb F, formada por duas cadeias gama e duas cadeias alfa, é característica do período fetal do desenvolvimento, tendo sua síntese diminuída no período pós-natal. em algumas alterações hereditárias, a Hb F permanece aumentada, como nas delta-beta talassemia, beta talassemia e persistência hereditária de Hb F (PHHF). A síntese da globina gama também pode ser estimulada por fatores externos como leucemias, transplantes de medula óssea, induções químicas, dentre outros. Através da observação de Hb F aumentada em doadores de sangue por procedimentos eletroforéticos objetivou-se avaliar a quantidade de Hb F em amostras de sangue de candidatos à doação, visando estabelecer seus limites de normalidade na população de São José do Rio Preto e região, por meio de desnaturação alcalina e cromatografia líquida de alta pressão (HPLC), comparar as metodologias aplicadas e, nos indivíduos com Hb F aumentada, realizar estudos moleculares para identificar as mutações que alteram a expressão dos genes gama. Foram analisadas 208 amostras de sangue, sendo 119 de candidatos à doação e 89 de indivíduos sem sintomas de anemia ou achados hematológicos e com Hb F aumentada como grupo comparativo. Das 119 amostras de candidatos à doação, 110 foram utilizadas para traçar o perfil de normalidade de Hb F, comparando-se as metodologias de desnaturação alcalina e HPLC, onde se obteve a média de 1,48% e de 0,6%, respectivamente. A análise estatística por regressão linear mostrou diferença significativa na comparação entre as duas metodologias aplicadas, sendo a HPLC mais precisa para a quantificação de Hb F. Foram observados nos testes de rastreamento de hemoglobinas anormais nestas 110 amostras de sangue: 16,4% de alfa talassemia, 0,9% com Hb F aumentada, 0,9% com beta talassemia e 0,9% com hemoglobina variante de cadeia delta. Os outros nove doadores de sangue apresentaram Hb F acima de 10% em eletroforese e observou-se média de 32,28% para desnaturação alcalina e de 26,4% para HPLC. As análises moleculares por PCR-ASO foram realizadas na tentativa de se identificar um defeito genético que pudesse explicar o aumento de Hb F, pelo rastreamento de 16 mutações que originam talassemias do tipo beta. Encontraram-se 5,3% de heterozigotos para mutação CD6-A e 1,75% para as mutações CD 39, IVS1:6, -87 e IVS2:654, todas em heterozigose. Os resultados encontrados neste estudo evidenciam a necessidade de melhor caracterização dos perfis de hemoglobina obtidos pelos métodos clássicos e a importância de sua caracterização molecular.

Relationship between oxidative stress, glutathione S-transferase polymorphisms and hydroxyurea treatment in sickle cell anemia

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Serum melatonin level and oxidative stress in sickle cell anemia

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Quadro seroproteico como auxílio diagnóstico na anemia hemolítica imunomediada em cães

No presente protocolo experimental, determinaram-se os proteinogramas séricos, por intermédio da eletroforese em gel de poliacrilamida contendo duodecil sulfato de sódio (SDS-PAGE), de 120 cães com raças e idades variadas e atendidos junto ao Hospital Veterinário Governador Laudo Natel da FCAV/Unesp, com o objetivo principal de comparar diferentes frações seroproteicas em estados anêmicos regenerativos, arregenerativos, imunomediados primários e secundários. Os referidos animais foram distribuídos em cinco grupos experimentais: grupo 1: 20 cães de controle; grupo 2: 28 cães com anemia regenerativa não imune; grupo 3: 27 cães com anemia arregenerativa não imune; grupo 4: 10 cães com anemia hemolítica imunomediada primária; grupo 5: 35 cães com anemia hemolítica imunomediada secundária. A técnica SDS-PAGE permitiu o fracionamento de 24 proteínas, cujos pesos moleculares (PM) variaram de 18.000 a 165.000 daltons (Da). Os cães com AHIM primária e secundária apresentaram 24 frações proteicas em seus traçados eletroforéticos, enquanto que cães de controle (1) e portadores de anemia regenerativa (2) e arregenerativa (3) de natureza não imune apresentaram 23 frações de proteínas, cuja proteína de peso molecular 68.000Da não foi encontrada. Dessa forma, 23 frações proteicas foram detectadas e revelaram-se comuns aos proteinogramas dos cães de controle e daqueles dos quatro grupos experimentais. Destas, identificaram-se nominalmente 11 frações proteicas, e as demais foram estudadas com base nos seus respectivos pesos moleculares. em relação aos cães de controle, os anêmicos (grupos 2, 3, 4 e 5) apresentaram maiores concentrações de transferrina sérica e entre estes os animais portadores da AHIM primária. Todos os cães anêmicos apresentaram teores séricos de haptoglobina e fosforilase significativamente maiores que os controles, enquanto que a concentração sérica de ceruloplasmina foi significativamente maior nestes. Tais achados analisados em conjunto agregam informações adicionais úteis à elucidação das AHIMs em cães.

Equine infectios anemia of traction equids in the Cuiaba Districty, MT, Brazil

The present study it had for objective to search the AIE in equids traction of the city of Cuiaba, of which if it extracted an inquiry epidemiologist and a sampling of blood serum of 113 animals (110 equines and 3 mules) that they transited for the public ways. The sampling of the animals was random how much to the age (of 8 months the 20 years) and sex of the animals where 67 (60.9%) were of females and 46 (41.8%), of males, with a average of 22 working hours per week. The samples of blood had been analyzed by means of the technique of AGID test. The results of the blood tests had indicated that of the 110 examined samples of blood serum of the equines, thirteen (11.8%) were positive, being seven of female (10.4% of the total of females) and 6 males (13.0% of the total of males), all no symptoms animals and the age of the positive animals was concentrated in the band of 6 10 years, representing 84.6% (11 animals). The results of the blood tests had also indicated that of three mules analyzed, 1 (33.3%) was positive.

Anemia em crianças menores de dois anos atendidas nas unidades básicas de saúde no Estado de São Paulo, Brasil

The present study sought to determine the prevalence of anemia in 2,992 children, aged between 6 and 23 months, who voluntarily attended 160 Basis Health Care Units, located in 63 cities of the 5 Regional Health Coordinating areas of the State of S. Paulo, Brazil. Blood samples were collected by venous puncture and hemoglobin was measured by the cianometahemoglobin method. The WHO criteria for the diagnosis of anemia (Hb < 11.0 g/dl) were used: 59.1% of the children were shown to be anemic, with prevalence varying from 47.8% to 68.7% in the 5 RHCs. RHC 1, which comprises the Greater S. Paulo Region, presented a prevalence of anemia significantly lower than the other 4 RHCs, which cover the rest of the State. Hemoglobin levels 9.5 g/dl were found in 25.1% of the children. Anemia was more frequent in male children in male children, in those born, with a weight of less than 3,000 gr, in those who were breastfed for less than 2 months and in those that who presented some degree of energy deficient proteic malnutrition, according to Gomez's criteria. This is the first of a series of 4 articles whose purpose is the determining the prevalence of anemia in the State of S. Paulo and of testing the intervention alternatives with a view to curtailing the incidence of this pathology which today is the most prevalent nutritional disturbance in the world.

Fortificação do leite fluido na prevenção e tratamento da anemia carencial ferropriva em crianças menores de 4 anos

The effectiveness of the use of chelate aminoacid iron fortified fluid milk in the treatment of iron deficiency in children under four years of age was studied. The 269 children included in this trial received 1 liter/day of fluid milk fortified with 3 mg of chelate aminoacid iron and were evaluated at six monthly intervals. At the beginning of the study 62.3% of the children presented anemia. After 6 months, this percentage had decreased to 41.8% and at the end of one year to 26.4%. The greatest decreases occurred in the groups comprising the subjects who were of 12 to 23 months of age and those under one year of age. Among the children who presented initial hemoglobin levels under 9.5 g/ dl, 59.3% were free of anemia after one year of follow-up. Of those presenting initial hemoglobin levels between 9.5 and 10.9 g/dl, 66.7% recovered from their anemia. There was also greater hematological improvement in the children that ingested over 750 ml/day of fortified milk in those families that did not share the supply of supplement among their other members and in those families that had only one child under five years of age. These findings led to the conclusion that the fortification of fluid milk is a viable and effective method for the treatment of iron deficiency in pre-school children.

Interferentes eritrocitários e ambientais na anemia falciforme

Erythrocytes and environmental interferences on sickle cell anaemia Sickle cell anaemia runs na extremely variable clinical course At one end of spectrum, it is characterized by a crippling haemolitic anaemia, interspersed with severe exacerbations, or crises, yet it may be an extremely mild disorder, which is found only by chance on rotine haematological examination. The reasons are only partly understood for these remarkable differences in phenotypic expression of what appears to be the same genetic defect: they include the level of Hb Fetal, coinheritance of the alpha thalassaemia and of other genetic variantsthat has influence as genetic modulation in sickle cell anaemia. However, other genetics abnormalities of erythrocytes: G-6PD deficiency, spherocytosis and deficiencies of anti-oxidant enzymes(SOD, GPx and Catalase) probably interfereon the clinical course of sickle cell anaemia. The haplotypes of the chromosome (Bantu, Benin, Camaroon and Arab-Indian) bearing the sickle gene is associated with assorted haematological and clinical features that are likely, at least in part, to be mediated throgh effects on Hb Fetal concentration. Beyond these factors characterizes as erythrocytes interferents, there are the environmental interferents. Between environmental interferents become detached the socio-economic and cultural situation of each patient. These aspects have influence on the life of affected individuals including social interactions, family relations, peer interaction, intimate relationships, education, enployment, violence, spiritual attitudes and navigating complexities of the health care system, providers and their ancillary functions. As a result of this article it is proposed a protocol of laboratorial management of sickle cell syndrome with detach to sickle cell anaemia.

A complexa fisiopatologia dos episódios vasooclusivos na anemia falciforme

Hemolytic anemia and vasoocclusion are the cardinal clinical features of sickle cell anemia. Vasoocclusion is a complex process involving not only the polymerization of deoxygenated sickle hemoglobin tetramers, but also interactions between sickle erythrocytes, vascular endothelium, platelets, leukocytes, and plasma proteins. The increased adherence of sickle erythrocytes to endothelium has been implicated as an early step in vasoocclusion. Other researchers have focused on leukocytes and platelets which might also contribute to disturbed blood flow. Microvascular occlusion results in acute painful crises, whereas macrovascular occlusion seems to be the cause of organ failure. The anemia results from the markedly shortened circulatory survival of sickle erythrocytes, together with a limited erythropoietic response. The erythropoiesis increases intensively, but it is not enough to balance the increased rate of erythrocytes destruction to maintain normal levels of total erythrocytes and hemoglobin concentrations; mainly by the low oxygen affinity of hemoglobin S and increased 2,3-Diphosphoglycerate. It is very difficult to separate processes leading to anemia or to vasoocclusion. Understanding the involvement of multiple blood componentes in vasoocclusion may elucidate the clinical manifestations and complications of sickle cell anemia, and may give new insights into the preventive and curative therapy.

Naso-orbicular tissue necrosis by Streptococcus parasanguis in a patient with Fanconi anemia: Clinical and laboratory aspects

Fanconi anemia (FA) is a rare autosomal recessive disorder, characterized by pancytopenia and progressive hypoplasia of the bone marrow. A 23-year-old woman with FA showed severe pancytopenia and developed an abscess on the infraorbicular region on the right side of the face that progressed to phlegmon and caused tissue necrosis of the nostrils, nasal septum, nasal fossa, and posterior orbital region. Laboratory examination showed Streptococcus parasanguis as the etiologic agent of the phlegmon. Supportive treatment was recommended due to donor incompatibility for bone marrow transplant. The intraoral examination showed spontaneous gingival bleeding, edema of the interdental papillae, hematomas on the superior and inferior lips, bacterial and fungal infections, and adequate oral hygiene. The patient was treated with the administration of an antibiotic (imipenem), an antifungal (amphotericin B), and mouth washing with antiseptic solutions. Periodontal prophylaxis and orientation to and control of oral hygiene and diet were also used during the remission period. For functional and esthetic rehabilitation of the alar regions and nasal dorsum, an acrylic resin nasal prosthesis was made, supported by a spectacle frame.

Interdisciplinary approach to treat dyskeratosis congenita associated with severe aplastic anemia: A case report

This paper reports on a 4-year-old male who had dyskeratosis congenita and who acquired severe aplastic anemia. The patient developed hyperpigmentation of the face, neck and chest region, arms, shoulders and legs. In addition, he had dry skin, deformed fingernails and toenails, sparse hair and eyebrows and hyperkeratosis of the dorsum of the hands and feet. Laboratory and histological analysis revealed severe pancytopenia and dyserythropoiesis of red blood cells, hypocellularity of white blood cells and decreased megakaryocytes with dysplasia. The intraoral examination identified bleeding gums; petechiae of the palate, tongue and cheek mucosa; and an atrophic, smooth and shining dorsal surface of the tongue. There were deep carious lesions in the deciduous mandibular molars and maxillary anterior teeth; as well as mobility of mandibular left canine, which had bone loss. The treatment for oral lesions included diet changes, improved oral hygiene, and extraction of the deciduous teeth destroyed by caries.

Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America.

We looked for abnormal hemoglobins in blood samples sent for diagnosis of anemia. Identification of the hemoglobins was made using electrophoretic, chromatographic and molecular procedures. The 2020 blood samples were of patients from various regions of Brazil and from some other Latin American countries. Among the abnormal hemoglobins that we found, 3.5% are known to be rare, while 51% had an electrophoretic profile similar to that of Hb S at alkaline pH. Differentiation was possible only by combining electrophoretic and chromatographic methods. Hb Hasharon, an alpha globin chain mutant, was the most frequently found variant hemoglobin; it accounted for 14.3% of the abnormal DNA samples. The other abnormal hemoglobin phenotypes displayed distinct electrophoretic profiles; most of them migrated faster than Hb A. The frequencies of the different abnormal hemoglobin profiles that we found reflect the miscegenation of the Latin American population and indicate the importance of hemoglobin studies using various methods in combination for accurate diagnosis and appropriate counseling of carriers and their families.