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Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil
Borges, Maria Luiza Rocha da Rosa; Souza, João Lucas Cruz; Rodrigues, Luiz Henrique; Cornélio, Maria Teresa Marquim Nogueira; Anjos, Ana Claudia dos; Santos, Neide; Salles, Terezinha de Jesus Marques.
Afiliación
  • Borges, Maria Luiza Rocha da Rosa; Universidade Federal de Pernambuco (UFP). Recife. BR
  • Souza, João Lucas Cruz; Hospital Universitário Oswaldo Cruz (HUOC). Recife. BR
  • Rodrigues, Luiz Henrique; Hospital Universitário Oswaldo Cruz (HUOC). Recife. BR
  • Cornélio, Maria Teresa Marquim Nogueira; Hospital Universitário Oswaldo Cruz (HUOC). Recife. BR
  • Anjos, Ana Claudia dos; Fundação de Hematologia e Hemoterapia de Pernambuco. Recife. BR
  • Santos, Neide; Universidade Federal de Pernambuco (UFP). Recife. BR
  • Salles, Terezinha de Jesus Marques; Hospital Universitário Oswaldo Cruz (HUOC). Recife. BR
Hematol., Transfus. Cell Ther. (Impr.) ; 46(2): 113-118, 2024. tab, graf
Article en En | LILACS, ColecionaSUS | ID: biblio-1564550
Biblioteca responsable: BR408.1
Ubicación: 2531-1379-htct-46-02-0113.xml / BR408.1
ABSTRACT
ABSTRACT

Introduction:

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by chromosomal instability and increased predisposition to malignancy. The diagnosis of FA requires clinical evaluation, confirmation of chromosomal fragility and/or analysis of genetic mutations. Therefore, this study aims to identify the clinical profile of patients with FA in the state of Pernambuco, Brazil.

Method:

We analyzed 100 individuals referred from the major hematology and bone marrow (BM) transplant centers in the state of Pernambuco, Brazil, between the years 2018 and 2022. The diagnosis of FA was performed using the mitomycin C chromosomal fragility test, clinical data and classical and molecular cytogenetic analyses.

Results:

We enrolled a total of 16 patients with FA to comprise this study. Most of these individuals (87.5%) came from the Agreste and Sertão regions of Pernambuco. We observed a slight female prevalence of FA (1.31). The primary clinical and laboratory findings were café au lait spots (62.5%) and bone abnormalities (53%, mainly thumb deformities [40%]). We performed BM cytogenetic analysis for eight patients - seven showed no chromosomal abnormalities and one presented the karyotype 47,XY,+21 [15].

Conclusions:

Our results are important to promote public health measures for the early diagnosis of FA, as well as to foster the engagement of a multidisciplinary group in the treatment of this disease.
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS / ColecionaSUS Asunto principal: Citogenética / Anemia de Fanconi Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: America do sul / Brasil Idioma: En Revista: Hematol., Transfus. Cell Ther. (Impr.) Asunto de la revista: Hematologia / TransfusÆo de Sangue Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Brasil
Texto completo
Añadir a Mi BVS
Imprimir
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Texto completo: 1 Colección: 01-internacional Base de datos: LILACS / ColecionaSUS Asunto principal: Citogenética / Anemia de Fanconi Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: America do sul / Brasil Idioma: En Revista: Hematol., Transfus. Cell Ther. (Impr.) Asunto de la revista: Hematologia / TransfusÆo de Sangue Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Brasil