Sickle cell disease associated with thalassemia; description of a rare mutation

Autor:	Josep Oriol Casanovas Marsal, Elisa Viladés Palomar, Samira Bakali Badesa, Ana Gómez Martínez, Valle Recasens, María Ángeles Montañés Gracia, Sergio Felipe Pinzón Mariño, Ana María Villegas Martínez, Silvia Méndez Martínez, Paloma Ropero Gradilla, Francisco de Asís Bartol Puyal, Fernando Ataulfo González Fernández, Carlos Isanta Otal, Beatriz Cordón Ciordia, José Alejando García Ortego
Rok vydání:	2021
Předmět:	Male Hemolytic anemia Anemia Hemolytic 030213 general clinical medicine Adolescent Thalassemia Clinical Biochemistry Cell Disease 030204 cardiovascular system & hematology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine medicine Humans Mutation business.industry General Medicine medicine.disease Abnormal hemoglobin Hemoglobinopathies medicine.anatomical_structure Hemoglobinopathy Immunology Hemoglobin business
Zdroj:	Clinical Biochemistry. 94:80-82
ISSN:	0009-9120
DOI:	10.1016/j.clinbiochem.2021.04.016
Popis:	Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the β globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family (Oshima et al., 1996).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10a5122232ba487af5855d9b38ca679 https://doi.org/10.1016/j.clinbiochem.2021.04.016 Zobrazit plný text záznamu Full Text from ScienceDirect