Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
1.
Hemoglobin ; 44(4): 294-296, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32693657

RESUMEN

Here we report a Spanish family in which two members, mother and daughter, present with a phenotype of mild non transfusion-dependent thalassemia (NTDT) due to compound heterozygosity for δß-thalassemia (δß-thal) and the α gene triplication ααα-3.7. They carry the most prevalent form of δß-thal in Spain, the so-called Spanish δß0-thal, which consists of a deletion of 114 kb that affects the δ and ß genes. A mild microcytic anemia [hemoglobin (Hb) 10.6 g/dL and mean corpuscular volume (MCV) 72.8 fL, and Hb 10.9 g/dL and MCV 70.0 fL, respectively], hypocromia [mean corpuscular Hb (MCH), 23.4 and 22.6 pg, respectively], increased red blood cell (RBC) distribution width (RDW) (20.0 and 21.9%, respectively), high fetal Hb (Hb F) (23.7 and 21.6%, respectively) with Hb A2 within the normal range, and splenomegaly, were present in the affected subjects. In areas were δß-thal is prevalent, the interaction with triplicated α-globin genes should be suspected in cases of mild NTDT if Hb F is high and Hb A2 is not increased.


Asunto(s)
Mutación , Globinas alfa/genética , Talasemia beta/diagnóstico , Talasemia beta/genética , Adolescente , Adulto , Anciano , Alelos , Análisis Mutacional de ADN , Índices de Eritrocitos , Femenino , Genotipo , Hemoglobinas Anormales/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , España , Globinas beta/genética , Talasemia beta/sangre
2.
Lab Med ; 52(2): 141-145, 2021 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-33336243

RESUMEN

OBJECTIVE: Early detection of patients with COVID-19 who will need mechanical invasive ventilation (MIV) may aid in delivering proper care and optimizing the use of limited resources. METHODS: In this single-center retrospective observational study, we aimed to identify simple laboratory parameters that in combination with ferritin (a surrogate marker of severe inflammation) may help predict early (first 48 hours) MIV. A total of 160 patients with COVID-19 in whom serum ferritin, absolute lymphocyte count (ALC), platelet count, C-reactive protein (CRP), and lactate dehydrogenase (LDH) had been analyzed at admission were included. RESULTS: We found that ferritin, LDH, ALC, and CRP predicted with 88% accuracy the probability of early MIV. Results indicated that LDH showed the greater area under the curve (AUC), with a value of 89.1%. Using the AUC, we established cutoff values for clinical application. Finally, we developed a classification tree based on LDH for its clinical use. CONCLUSION: Ferritin, LDH, ALC, and CRP predict with 88% accuracy the probability of early MIV.


Asunto(s)
Proteína C-Reactiva/metabolismo , COVID-19/sangre , Ferritinas/sangre , L-Lactato Deshidrogenasa/sangre , Respiración Artificial/estadística & datos numéricos , Adulto , Anciano , Biomarcadores/sangre , COVID-19/terapia , Femenino , Humanos , Modelos Logísticos , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA