The XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

We report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not using hydroxyurea and was not receiving regular blood transfusions. The patient never had chronic manifestations of sickle cell anaemia, only pain crises of a mild intensity. After laboratory tests, we found that she was homozygous for HbS with the Bantu/atypical haplotype, and was heterozygous for the XmnI site. The influence of the XmnI site on the expression of HbF can explain the amelioration in clinical features in this haplotype association in a case of sickle cell anaemia

Hyper-hemolytic transfusional reaction in sickle cell patients: two case reports

The chronic character of sickle cell anemia associated with the greater capacity to liberate oxygen by the Hb S, results in patients exhibiting few symptoms in relation to the anemia and they do not require regular hemacias transfusions. Nevertheless, in the face of acute complications, the additional drop in hemoglobin can precipitate an imbalance in the cardio-respiratory function and put the life of the patient at risk, making blood transfusion therapy of utmost importance. In the light of the increased frequency of transfusions to which these patients are submitted, knowledge of the main risks and an adequate diagnosis of the complications caused by transfusional therapy are of fundamental importance. An atypical form of transfusional reaction, denominated hyperhemolytic transfusional reaction was recently described in sickle cell anemia patients after the transfusion of apparently compatible hemacias. In this case, previous conditions can exacerbate the hemolytic condition and put the life of the patient at risk. The pathophysiological conditions of this disease are not yet understood well and the treatment consists of suspending transfusions, corticoid therapy and / or administration of immunoglobulin. The aim of this work is o present two case reports of hyperhemolytic transfusional reaction in sickle cell anemia patients.O caráter crônico da anemia, nos pacientes portadores de anemia falciforme, associado à maior capacidade de liberação de oxigênio pela Hb S, faz com que sejam pouco sintomáticos em relação à anemia e não necessitem de forma rotineira de transfusão de hemácias. Contudo, na vigência de complicações agudas, a queda adicional da hemoglobina pode precipitar descompensação da função cardio-respiratória e colocar em risco a vida do paciente, tornando a transfusão de sangue um recurso terapêutico de grande importância. Em virtude da elevada freqüência de transfusões a que esses pacientes são submetidos, é de fundamental importância o conhecimento dos principais riscos e o diagnóstico adequado das complicações decorrentes da terapia transfusional. Uma forma atípica de reação transfusional, denominada reação transfusional hiperhemolítica, foi descrita recentemente em pacientes com anemia falciforme após transfusão de hemácias aparentemente compatíveis. (4,5,6,7) Nesta condição, transfusões ulteriores podem exacerbar o quadro hemolítico e colocar em risco a vida do paciente. Os mecanismos patofisiológicos exatos dessa entidade ainda não são bem conhecidos e o tratamento consiste na suspensão da transfusão, corticoterapia e/ou administração de imunoglobulina. O objetivo deste trabalho é apresentar o relato de dois casos de reação transfusional hiperhemolítica em pacientes portadores de anemia falciforme.Universidade Federal de São Paulo (UNIFESP)Santa Casa de São Paulo Faculdade de Ciências MédicasUNIFESPSciEL

Brazilian consensus meeting on stem cell transplantation: hemoglobinopathies comittee

Os distúrbios hereditários das hemoglobinas são as doenças genéticas mais frequentes do homem e mais difundidas no mundo, abrangendo sobretudo continentes como África, Américas, Europa e extensas regiões da Ásia. Estima-se que haja 270 milhões de portadores de hemoglobinopatias no mundo, dos quais 80 milhões são portadores de talassemia. Aproximadamente 60 mil crianças nascem anualmente no mundo com talassemia e 250 mil com anemia falciforme, dando uma frequência de 2,4 crianças afetadas para cada 1.000 nascimentos. No Brasil, a doenca falciforme é a doença hereditária monogênica mais comum, estimando-se que haja entre 20 a 30 mil pacientes portadores desta doenca. O transplante de células-tronco hematopoéticas alogênico (TCTH alo) é atualmente a única modalidade terapêutica capaz de curar pacientes com hemoglobinopatias. Neste artigo discutiremos os dados disponíveis na literatura e sugerimos os critérios para a indicação do TCTH nas hemoglobinopatias.Hemoglobinopathies are the most prevalent genetic diseases in man. Most cases are described in Europe, Africa and in the Americas. About 270 million hemoglobinopathy carriers are alive today with 80 million being carriers of thalassemia. We estimate that, throughout the world, about 60,000 children are born annually with thalassemia and 250,000 with sickle cell disease with an estimated frequency of 2.4 children in every 1000 births. Sickle cell disease is the most common monogenic hereditary disease in Brazil with a total of from 20,000 to 30,000 patients. Allogeneic stem cell transplantation is the only curative approach. Here we describe published data and propose criteria to indicate stem cell transplantation in thalassemia and sickle cell disease patients

Interface da má absorção da frutose e depressão: revisão sistemática da literatura

The present study aims to clarify whether patients with poorly absorption of fructose are more susceptible to develop depression. It is a systematic review of literature using the descriptors of health, in BVS Salud and Medline database. Inclusion criteria: studies with patients with or without fructose malabsorption, and with or without depressive symptoms, in all age, groups of both sexes and animal studies. In English, Spanish and Portuguese. Exclusion criteria: studies whose focus was not the fructose malabsorption affecting directly or indirectly in the emergence of depression. Nine articles were recovered, published in English between 1998 and 2014, two of them are reviews, one cross sectional study, five cohort and one clinical trial. The methodological quality was evaluated by the journal´s impact factor where the article was published; in addition to analyzing the quality of each by the CASP and Strobe, evaluated by EQUATOR. One positive relation between fructose malabsorption and depression was found in eight studies except one. The relation between fructose malabsorption and depression is hardly implemented in clinical / gastroenterological practice; so many cases are not being diagnosed. Nowadays, the prevalence of depression is high and the etiology is multifactorial. This is the first national study that correlates systematically the fructose malabsorption and depression. New studies are needed for the diagnosis and therapy

Non-HFE hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles