Subject(s)
Humans , Infant, Newborn , Counseling , Sickle Cell Trait/therapy , Mothers , Neonatal Screening , Sickle Cell Trait/diagnosisABSTRACT
O traço falciforme associado à alfa-talassemia (AS/α-talassemia) é uma característica rara na população do sul do Brasil. Em função deste e de outros motivos, casos dessa interação são confundidos e muitas vezes subdiagnosticados como sendo de anemia ferropriva, o que pode levar pacientes a tratamentos desnecessários e, muitas vezes prejudiciais à sua saúde. Este trabalho relata o caso de uma paciente de 80 anos de idade que, após participar de um estudo populacional sobre incidência de hemoglobinopatias, descobriu ser portadora da interação AS/α-talassemia. Até então vinha recebendo tratamento para anemia ferropriva, apesar de não apresentar melhora. Este trabalho discute ainda como os índices hematimétricos, associados aos achados eletroforéticos, contribuíram para um diagnóstico diferencial da interação AS/α-talassemia, o que pode auxiliar médicos e profissionais da saúde a um diagnóstico mais preciso, visando à melhoria da qualidade de vida do paciente e, consequentemente, a diminuição da incidência destas doenças genéticas na população.
Sickle cell trait, associated to alpha-thalassemia (AS/α-talassemia), is a rare characteristic in the population living in the South of Brazil. Because of such a rare condition and other reasons, cases of that interaction are confusing and most of the times sub-diagnosed as iron deficiency anemia, thus submitting the disease carrier to unnecessary treatments which, most of the time, are harmful to the patients health. The present study reports the case of an 80-year-old patient, who after taking part in a study on the incidence of hemoglobinopathies on population, discovered to carry the interaction AS/α-thalassemia. Up to then the patient had been submitted to treatments to control iron deficiency anemia, although not presenting any improvement. Moreover, the present study discusses how hematimeter indexes, associated to electrophoretic findings, have contributed for a differential diagnosis of AS/α-talassemia interaction, what may aid physicians and health professionals to obtain a more precise diagnosis, aiming at improving the patients life-quality, and consequently, leading to a decrease in the incidence of such genetic diseases in the population.
Subject(s)
Humans , Anemia , Hemoglobinopathies , Jaundice , Sickle Cell Trait/complications , Sickle Cell Trait/therapyABSTRACT
During last ten years, over 4000 umbilical cord blood transplantations have been performed worldwide. The interest in this modality of transplantation has been growing as this provides easy access to an alternative source of stem cells for treating cancer and serious genetic disorders with otherwise fatal outcome or immense morbidity. Umbilical cord blood is a commonly discarded source of useful stem cells. The outcome of transplantation using cells from this source in children mirrors the results of unrelated donor transplantation and hence the procedure is widely accepted by paediatric transplant community. Results are, however, hampered in adults due to low cell dose. Newer techniques, such as pooled or sequential cord blood transplantation, may help to increase progenitor cell numbers and improve immune reconstitution. In near future, non-haematopoietic uses will make this even more exiting area. In this write-up, we will review this treatment including cord blood banking issues and the ethical concerns. We will discuss both paediatric and adult transplantations including certain new indications.
Subject(s)
Adult , Child , Cord Blood Stem Cell Transplantation/methods , Humans , Sickle Cell Trait/therapy , Stem Cells , Thalassemia/therapyABSTRACT
Este protocolo aborda pacientes, crianças e adultos, portadores de Síndromes Falciformes, definidos como tendo em comum a herança do gen da globina beta falciforme (HBS). Inclui, portanto, as hemoglobinopatias SS, SC, S beta O e S beta + talassemia. Visa uma uniformizaçäo de condutas, proporcionando um melhor atendimento desses pacientes, bem como a realizaçäo de estudos prospectivos e retrospectivos.