Fernanda Zottmann, Jiviane Silva, S. Khatib, Gabriela Guimarães, Julia Coneglian, Bibiana Vinholes, L. Gebrin, C. Borges
{"title":"SC Hemoglobinopathy: a rare case report","authors":"Fernanda Zottmann, Jiviane Silva, S. Khatib, Gabriela Guimarães, Julia Coneglian, Bibiana Vinholes, L. Gebrin, C. Borges","doi":"10.18103/mra.v11i7.1.4112","DOIUrl":null,"url":null,"abstract":"In SC hemoglobinopathy, a rare type of sickle cell disease, patients may experience vaso-occlusive phenomena, but in a milder condition than in the SS form, considered classic and the most common among them. This current study aims to present a case of a patient with this rare form of hemoglobinopathy, who received a late diagnosis, and its clinical evolution, including symptoms, treatment and life expectancy based on the literature, but mainly on how the patient is clinically found after seven years of follow-up. It is important to have epidemiological studies about hemoglobinopathies, specially the rare forms, to obtain more information regarding the incidence/prevalence of the disease and clinical manifestations.","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"52 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medical research archives","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18103/mra.v11i7.1.4112","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
In SC hemoglobinopathy, a rare type of sickle cell disease, patients may experience vaso-occlusive phenomena, but in a milder condition than in the SS form, considered classic and the most common among them. This current study aims to present a case of a patient with this rare form of hemoglobinopathy, who received a late diagnosis, and its clinical evolution, including symptoms, treatment and life expectancy based on the literature, but mainly on how the patient is clinically found after seven years of follow-up. It is important to have epidemiological studies about hemoglobinopathies, specially the rare forms, to obtain more information regarding the incidence/prevalence of the disease and clinical manifestations.