Recambio de Hematíes en gestante con Anemia de Células Falciformes: reporte de un caso en el Hospital Regional de Talca / Red blood cell exchange in pregnant women with Sickle Cell Anemia: report of a case in the Regional Hospital of Talca

Sickle cell anemia or sickle cell disease is an autosomal recessive disease, caused by a mutation in the hemoglobin gene, where glutamic acid is substituted for valine at position 6 of the beta chain of hemoglobin, resulting in hemoglobin S The diagnosis is made with electrophoresis. The clinical manifestations are varied, the most frequent being the vaso-occlusive crisis, which can increase in pregnancy, during which sickle cell disease also increases the risk of maternal-fetal complications, caused by pre-eclampsia infections, intrauterine growth restriction, and premature delivery. and miscarriage. The usual treatment for the management of seizures is hydroxyurea, a drug that is teratogenic, so its use is contraindicated during pregnancy. Other treatment alternatives are red blood cell transfusion and red blood cell exchange. Next, the first case of red blood cell exchange or exchange transfusion in a pregnant patient with sickle cell anemia at the Hospital Regional de Talca is presented.

Occurrence of unusual haemoglobinopathies in balochistan: hb sd and hb se - presentation with osteomyelitis / Ocorrência de hemoglobinopatias incomuns no baluchistão: hb sd e hb se - apresentação com osteomielite

ABSTRACT Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

RESUMO Objetivo: Descrever dois casos de variantes raras da hemoglobinopatia falciforme. Descrição do caso: Apresentamos aqui dois casos de hemoglobinopatias variantes das células falciformes, de famílias não relacionadas, no estado do Baluchistão (Paquistão), sendo um diagnosticado como doença da hemoglobina SD na eletroforese de hemoglobina, enquanto o outro com doença da hemoglobina SE. Ambos foram diagnosticados a partir da apresentação de osteomielite. Comentários: Hemoglobina SD (Hb SD) e hemoglobina SE (Hb SE) são hemoglobinopatias raras no mundo. A escassez de literatura disponível sugere que ambas são variantes da doença falciforme (DF) com natureza heterogênea. A prevalência de hemoglobinopatia falciforme com heterozigosidade composta foi encontrada com frequência variável na população do sudeste asiático. A frequência de osteomielite na DF é de 12 a 18%, mas sua ocorrência entre as hemoglobinopatias falciformes variantes é pouco relatada. Os dois casos reportados apresentaram osteomielite como característica de apresentação da doença.

Chronic osteo-articular changes in patients with sickle cell disease

Abstract Background: Sickle cell disease (SCD) is an autosomal recessive genetic disease in which a mutation occurs in the β-globin chain gene, resulting in abnormal hemoglobin levels. In an environment with reduced oxygen concentration, red blood cells change their conformation, resulting in chronic hemolysis and consequent anemia and vaso-occlusive crises with injuries to several organs, with a significant impairment of the osteoarticular system. This study aimed to verify the chronic osteoarticular alterations and their association with clinical and laboratory characteristics of patients with SCD with a more severe phenotype (SS and Sβ0), on a steady-state fasis. Methods: Fifty-five patients were referred to a medical consultation with a specialized assessment of the locomotor system, followed by laboratory tests and radiographic examinations. Results: In total, 74.5% patients had hemoglobinopathy SS; 67.3% were female; and 78.2% were non-whites. The mean patient age was 30.5 years. Most patients (61.8%) reported up to three crises per year, with a predominance of high-intensity pain (65.5%). Radiographic alterations were present in 80% patients. A total of 140 lesions were identified, most which were located in the spine, femur, and shoulders. Most lesions were osteonecrosis and osteoarthritis and were statistically associated with the non-use of hydroxyurea. Conclusions: There was a high prevalence of chronic osteoarticular alterations, which was statistically associated only with the non-regular use of hydroxyurea.(AU)

The influence of hydroxyurea on oxidative stress in sickle cell anemia

OBJECTIVE: The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. METHODS: Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. RESULTS: Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001). The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione). Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040) and lower hemoglobin F concentrations(r = -0.52; p = 0.0067). On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111) and positively associated with hemoglobin F values (r = 0.56; p = 0.0031). CONCLUSION: Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals.

Effect of hydroxyurea on thalassemia major and thalassemia intermedia in iranian patients

Hydroxyurea has been used in thatassemia major [T.M.] and thalassemia intermedia patients since 1994 with some success in different centers. The objective was to evaluate the effect and possible side effects of hydroxyurea in these patients. This was a descriptive study done in 2007 after nine years of initiation of Hydroxyurea. Medical records of 1050 patients were reviewed. Patients who had received hydroxyurea for at Least three continuous months were enrolled into the study. Clinical and laboratory data during six months before and six month after starting hydroxyurea were compared. Two hundred ninety seven patients were enrolled of these two hundred forty eight [83.8%] were thalassemia major and forty eight [16.2%] were thatassemia intermedia. Dose of hydroxyurea was 15.5 +/- 6.4mg/kg /day and duration was 5.2 +/- 2 years [ranging 0.5-9 years]. Transfusions were completely stopped in one hundred eleven [44.7%] of thalassemia major patients with a mean Hb of l0g/dl. After 22.5 +/- 18 months, using Desferal was stopped in sixty six [26.6%] patients. The reasons for stopping hydroxiurea were "ineffectiveness" in 20%, "poor compliance" in 12.4% and side effects in 13.4% of patients. The side effects were nausea, palpitation, transient leucopenia and transient raising of creatinin. Hydroxyurea is effective and safe in thalassemia major and thalassemia intermedia patients and saves them from side effects of blood transfusions

Eficácia e toxicidade da hidroxiuréia em crianças com anemia falciforme / Effectiveness and toxicity of hydroxyurea in children with sickle cell anemia

A anemia falciforme é uma doença genética caracterizada pelo alto índice de morbimortalidade, considerada como a mais grave entre as doenças falciformes. As opções terapêuticas mais eficazes atualmente disponíveis para tratamento desta hemoglobinopatia são transplante de medula óssea (TMO) e hidroxiuréia (HU). O TMO apesar de ser a medida curativa é considerado de alto risco por apresentar diversos graus de complicações e significativo nível de mortalidade. O uso de HU em crianças portadoras de anemia falciforme tem proporcionado redução de complicações clínicas e aumento significativo na expectativa de vida, por promover elevação dos níveis de hemoglobina fetal, da concentração de hemoglobina e do VCM, bem como redução da hemólise e de eventos vaso-oclusivos. Desse modo, a HU é considerada como melhor opção terapêutica atualmente disponível. Porém, por ser apontada como droga potencialmente carcinogênica, há questionamentos quanto aos benefícios e toxicidades quando utilizada por longo período. Este trabalho teve como proposta, avaliar por meio da revisão literária, os riscos, benefícios e efeitos adversos da hidroxiuréia em crianças.

Sickle cell anemia is a genetic disease characterized by a high morbimortality rate, it is considered as the most serious among all sickle cell diseases. The most effective therapeutic options available nowadays for the treatment of this hemoglobinopathy are bone morrow transplantation (BMT) and hydroxyurea (HU). BMT is considered a high risk procedure due to the different complications and significant mortality rates. The use of HU for children with sickle cell anemia has reduced the clinical complications and given a significant increase in life expectancy by augmenting the fetal hemoglobin levels and hemoglobin concentrations and reducing cytomegalovirus, as well as reducing hemolysis and vaso-occlusive events. Thus, HU is considered the best therapeutic option currently available. However, as HU has been identified as a potentially carcinogenic drug, there are questions related to the benefits and toxicities when it is used over long periods of time. This work aimed at evaluating, through a review of the literature, the risks, benefits and adverse effects of the use of hydroxyurea in children.

Comparative efficacy of methotrexate and hydroxyurea in treatment of psoriasis

Psoriasis is a common, genetically determined, inflammatory and proliferative disease of the skin. In contrast to the general belief that psoriasis is incurable, most of the patients are treated with different modalities showing variable responses. Moreover, considerable percentage of patients can be benefited by proper selection of treatment modality. we compared the efficacy of two drugs, methotrexate and hydroxyurea, the use of which is supported by immunopathogenic basis of origin of psoriasis in the treatment of psoriasis. A total of 40 patients of psoriasis having more than 20% body surface involvement during a one year period were alternatively allocated to group A and group B and treated with methotrexate 15mg per week and hydroxyurea 500mg twice a day respectively for three months. The patients were evaluated for response and side effects at 1, 2 and 3 months of treatment. The severity of disease was evaluated by PASI scoring using the method of Ramsay and Lawrence and the results of two groups were statistically compared. In group A, on methotrexate, the percentage reduction at one month was 47.21 +/- 8.70, which increased to 66.20 +/- 10.77 and 81.90 +/- 12.08 on two and three months of treatment respectively while in patients on hydroxyurea, the percentage reductions in score were found to be 40.47 +/- 15.32, 55.74 +/- 15.27 and 73.68 +/- 18.59 at one, two and three months. Both methotrexate and hydroxyurea were equally effective in the treatment of psoriasis. Also methotrexate lead to a faster clearance of disease in early course of treatment though both drugs had similar efficacy at the end of three months

Hidroxiuréia em pacientes com síndromes falciformes acompanhados no Hospital Hemope, Recife, Brasil / Hydroxyurea in sickle cell disease patients in Recife, Brazil

O uso de hidroxiuréia promove a elevação dos níveis de hemoglobina fetal (Hb F) em pacientes portadores de síndromes falciformes (SF) e o medicamento vem sendo estudado em vários grupos de pacientes, incluindo adultos e crianças. O presente trabalho analisou a eficácia e tolerabilidade do uso de hidroxiuréia em crianças na faixa etária entre 5 e 17 anos de idade e em adultos jovens acima de 18 anos, portadores de hemoglobinopatia SS ou Sbeta0 que foram acompanhados regularmente no ambulatório do Hospital Hemope. Os pacientes pediátricos foram tratados com dose inicial de hidroxiuréia de 10 mg/kg/dia, a qual era aumentada em 5 mg/kg por dia em intervalos de oito semanas, até a dose máxima de 25 mg/kg/dia. Para os adultos, o tratamento foi iniciado com 500 mg/dia de hidroxiuréia até a dose máxima de 1g/dia. Foi observada redução do número de crises álgicas assim como do número de internações hospitalares, elevação do nível de Hb F e do Volume Corpuscular Médio, no grupo pediátrico. Entre os pacientes maiores de 18 anos, também se observou melhora clínica e significância estatística com aumento dos valores da hemoglobina e redução dos valores de reticulócitos, leucócitos e plaquetas. Não foram observados sinais ou sintomas sugestivos de toxicidade medicamentosa em ambos os grupos. O uso de hidroxiuréia em todos os pacientes parece ser seguro e eficaz e assegura melhora da qualidade de vida e benefícios a seus familiares. Ademais, as doses preconizadas de hidroxiuréia aparentemente não foram mielotóxicas, não tendo sido necessária a suspensão do tratamento em nenhum dos pacientes.

The use of hydroxyurea increases concentrations of fetalhemoglobin (Hb F) in sickle cell disease patients. It has beenused in adults and in trials with children with the aim of preventingevents such as episodes of pain or stokes. The objective of thisstudy was to analyze the efficacy and side effects of Hydroxyureain children with ages ranging from 5 to 17 years and also inyoung adults with SS or Sâ0 hemoglobinopathies. The patientswere treated in the outpatient clinic of the Hemope Hospital.Young patients were treated with hydroxyurea at 10 mg/kg/daywhich was increased by 5 mg/kg/day at 8-week intervals untilreaching a maximum dose of 25 mg/kg/day. For adults, thetreatment started at 500 mg/day and increased until a dose of1000 mg/day was reached. Total Hb F levels and the MeanCorpuscular Volume rose with hydroxyurea therapy and therewas a reduction of events involving pain as well as the necessityof hospitalization among the pediatric patients. With the over 18-year-old patients, a better clinical state was noticed together witha rise in hemoglobin levels and a reduction in the reticulocyte,leukocyte and platelet counts. No signs or symptoms in respect todrug toxicity were evidenced in either group. The use ofhydroxyurea seems to be safe and effective in both children andyoung adults with sickle cell disease. The drug also improves thequality of life of these patients and their families. Additionally, thedosages of hydroxyurea used in this group of patients did notcause any bone marrow toxicity or other side effects.

Minimal doses of hydroxyurea for sickle cell disease

The use of hydroxyurea (HU) can improve the clinical course of sickle cell disease. However, several features of HU treatment remain unclear, including the predictability of drug response and determination of adequate doses, considering positive responses and minimal side effects. In order to identify adequate doses of HU for treatment of sickle cell disease, 10 patients, 8 with sickle cell anemia and 2 with Sbeta thalassemia (8SS, 2SBeta), were studied for a period of 6 to 19 months in an open label dose escalation trial (10 to 20 mg kg(-1) day(-1)). Hemoglobin (Hb), fetal hemoglobin (Hb F) and mean corpuscular volume (MCV) values and reticulocyte, neutrophil and platelet counts were performed every two weeks during the increase of the HU dose and every 4 weeks when the maximum HU dose was established. Reduction in the number of vasoocclusive episodes was also considered in order to evaluate the efficiency of the treatment. The final Hb and Hb F concentrations, and MCV values were significantly higer than the initial values, while the final reticulocyte and neutrophil counts were significantly lower. There was an improvement in the concentration of Hb (range: 0.7-2.0 g/dl) at 15 mg HU kg(-1) day(-1), but this concentration did not increase significantly when the HU dose was raised to 20 mg kg(-1) day(-1). The concentration of Hb F increased significantly (range: 1.0-18.1 per cent) when 15 mg HU was used, and continued to increase when the dose was raised to 20 mg kg(-1) day (-1). The final MCV values increased 11-28 fl (femtoliters). However, reticulocyte (range: 51-205 x 10(9)/l) and neutrophil counts (range: 9.5-1.3 x 10(9)/l) obtained at this dose were significantly lower than those obtained with 15 mg kg(-1) day(-1). All patients reported a decrease in frequency or severity of vasoocclusive episodes. These results suggest that a hydroxyurea dose of 15 mg kg(-1) day(-1) seems to be adequate for treatment of sickle cell disease in view of the minimal side effects observed and the improvement in laboratory and clinical parameters.

Hematological responses to hydroxyurea therapy in multitransfused thalassemic children.

Fifteen multi-transfused thalassemic children between 3-6 years of age (seven boys and eight girls) were administered hydroxyurea for 5 days and three such cycles were repeated at 15 days interval. Rise in hemoglobin levels was observed in 13, 8 and 7 cases, while rise in mean hemoglobin F was seen in 8, 11 and 10 cases following 1st, 2nd and 3rd course of hydroxyurea therapy respectively. Rise in hemoglobin level was associated with transient rise in fetal hemoglobin level. Though the changes in mean hemoglobin levels and hemoglobin F levels were statistically insignificant, a definite trend of rise in hemoglobin and hemoglobin F was observed.

Chronic myeloid leukaemia: clinico-haematological features and treatment response to hydroxyurea

Chronic myeloid leukaemia [CML] is one of the common cancers of adult age and accounts for 20-30% of all leukaemias. Almost 90-95% cases show Philadelphia chromosome which results in fusion of c-able oncogene of chromosome 9 with bcr of chromosome 22. The hybrid protein [p210] thus transcribed from bcr-able fusion product is an abnormal tyrosine kinase responsible for uncontrolled proliferation of myeloid precursors. The disease primarily affects older adults in the 4[th] and 5[th] decades of life and after a chronic phase of variable duration eventually terminates into a blastic phase. Short of bone marrow transplant there is no curative treatment for this disease although recent studies on the use of interferon seem to be promising. Cytotoxic therapy mostly comprising a single drug myeleran or hydroxyurea is aimed at prolonging the chronic phase and ameliorating the symptoms. Of the two, hydroxyurea is far less toxic and has a rapid effect but needs close monitoring and dose adjustments because of its short lived effect. In a prospective study we determined the clinico-haematological features of CML and response to hydroxyurea. This study revealed that CML occurs at a comparatively young age [median age 34 years] in our population. Most of the clinico-haematological features are similar to those described by others. However, the incidence of myelofibrosis is far higher [100%] than reported in other series. Hydroxyurea when used in a dose of 35 mg/kg body weight brings down the total WBC count to 150x10[9]/L. Follow up and dose adjustments during the maintenance phase should be more frequent [2 weekly] to keep the WBC count below 20x10[9]/L

Psoriasis en pacientes con infeccion por el virus de lainmunodefiencia humana / Psoriasis in patients with human immunodeficiency virus infection

Se presenta el estudio de 9 pacientes que padecen psoriasis con serologia positiva para HIV.Entre tres de ellos la aparicion de la psoriasis fue previa al dignostico del HIV+, en los restantes posterior. Las formas clinicas de psoriasis halladas fueron: vulgar en tres, invertida en tres, pustulosa en dos y con compromiso de pequeños pliegues en uno. Los antecedentes familiares de psoriasis estuvieron presentes en uno, no se consignaron en dos y estuvieron ausentes en seis. El estadio clinico de la infeccion por HIV fue C3 en cinco, B2 en tres y en uno B3. La psoriasis se caracterizo por ser mas severa y, en dos casos, acompañada de sepsis estafilococcica. El tratamiento con medidas locales(cremas con corticoides, queratoliticos y balneoterapia) obtuvo resultados variables y la antibioticoterapia endovenosa instituida por la sepsis mejoro notablemente las lesiones cutaneas.