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Sickle Cell Trait, Clinical Manifestations and Outcomes: A Cross-Sectional Study in Colombia: Increasing Rate of Symptomatic Subjects Living in High Altitude

BACKGROUND: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. We performed a descriptive analysis of clinical manifestations and outcomes associated with SCT. METHODS: This was a descript...

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Detalles Bibliográficos
Autores principales: Vargas-Hernández, Diego A, Uscategui-Ruiz, Adriana Catalina, Prada-Rueda, Andrés Jesus, Romero-Sánchez, Consuelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Università Cattolica del Sacro Cuore 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000961/
https://www.ncbi.nlm.nih.gov/pubmed/36908870
http://dx.doi.org/10.4084/MJHID.2023.015
Descripción
Sumario:BACKGROUND: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. We performed a descriptive analysis of clinical manifestations and outcomes associated with SCT. METHODS: This was a descriptive, cross-sectional study that included patients with SCT from 2014 to 2020 at Hospital Militar Central, the reference center of the Military forces in Bogota, Colombia. RESULTS: Of 647 hemoglobin electrophoresis analyzed, we identified 51 patients with SCT, including 43 males (84.3%) and eight females (15.7%), with a median age of 22 years (IQR 15–36 years). Of these, 28 (54.8%) were Afro-Colombian, 23 (45.1%) were Colombian mestizos, and 31/51 (60.8%) of patients were active military members. Twenty-four patients (47.1%) were asymptomatic, and Twenty-seven patients (52.9%) were symptomatic (systemic complications); Most of the patients who presented symptoms were active military members of the Colombian military forces. Splenic complications were the most important (85.2%), p=0.0005, and there was a wide spectrum of splenic complications. In addition, we found significant elevations in leukocytes, bilirubin, LDH, and CRP. Eighteen patients (66.7%) received medical management, five (18.5%) required splenectomy, and only 5.9% of patients were sent for genetic counseling. CONCLUSIONS: Military Personnel is a population with a high risk of developing symptoms, and splenic complications were the most relevant in symptomatic patients. Most patients received medical treatment, and 18.5% of patients required splenectomy. Our results reflect the absence of redirection of these patients to genetic counseling.