RESUMO
Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the diagnostic workflow for mild and moderate HS in Chinese individuals, using data from 20 adults, 8 of whom presented a familial history for HS. We used scanning electron microscopy (SEM) to diagnose HS. We observed reduced eosin maleimide fluorescence activity (5.50 mean channel fluorescence (MCF) units) in the 10 cases of HS, which differed significantly when compared with 10 normal adults (15.50 units), iron deficiency anemia (15.50 MCF units), and megaloblastic anemia (12.00 MCF units) values (P < .05). Next generation sequencing results revealed that 9 out of 10 patients were found to have mutations in the spectrin alpha chain (SPTB), anchor protein (ANK1), and SLC4A1 genes. These mutations were not reported in the Human Gene Mutation Database (HGMD), 1000 human genome, ExAC, and dbSNP147 databases. Splenectomy proved to be beneficial in alleviating HS symptoms in 10 cases. It was found that for the diagnosis of HS, SEM and next generation gene sequencing method proved to be more ideal than red blood cell membrane protein analysis using sodium dodecyl sulfate polyacrylamide gel electrophoresis and western blotting.
Assuntos
Anemia Ferropriva/diagnóstico , Anemia Megaloblástica/diagnóstico , Proteína 1 de Troca de Ânion do Eritrócito/genética , Anquirinas/genética , Espectrina/genética , Esferocitose Hereditária/diagnóstico , Adolescente , Adulto , Idoso , Anemia Ferropriva/etnologia , Anemia Ferropriva/genética , Anemia Megaloblástica/etnologia , Anemia Megaloblástica/genética , Povo Asiático , Biomarcadores/metabolismo , Estudos de Casos e Controles , Diagnóstico Diferencial , Amarelo de Eosina-(YS)/análogos & derivados , Amarelo de Eosina-(YS)/química , Feminino , Corantes Fluorescentes/química , Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Microscopia Eletrônica de Varredura , Pessoa de Meia-Idade , Mutação , Esferocitose Hereditária/etnologia , Esferocitose Hereditária/genética , Esferocitose Hereditária/cirurgia , Esplenectomia/métodosRESUMO
This study was aimed to investigate the significance of interphase fluorescence in situ hybridization (FISH) in detecting +12, del (13q14), p53 and atm gene deletion in chronic lymphocytic leukemia (CLL). FISH and a panel of probes (CEP 12, LSI D13S319, LSI p53, LSI atm) were used to detect molecular cytogenetic abnormalities in 30 patients with CLL. Cytogenetic aberrations and their relation with some other prognostic factors (peripheral lymphocyte count, Binet stage, LDH level, ZAP-70 and so on) were analyzed. The results indicated that out of the 30 CLL patients, molecular cytogenetic aberrations were found in 19 (63.3%) cases and 7 (23.3%) patients showed more than two kinds of abnormalities. The most frequent abnormality detected was del (13q14) (43.3%), followed by trisomy of chromosome 12 (23.3%), del (atm) (13.3%) and del (p53) (10.0%). There were no significant differences between molecular cytogenetic aberrations and sex, age, Binet stage, peripheral lymphocyte count, or the serum levels of lactate dehydrogenase (LDH), beta(2)-microglobulin (beta(2)-MG), or ZAP-70. The incidence of atm gene deletion was higher in the group of CD38 high expression than that in the group of low expression (p = 0.035). It is concluded that FISH is a rapid and sensitive technique in analysing molecular cytogenetic abnormalities, but its prognostic significance in CLL needs to further investigate.
