IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/ß+-Thalassemia Phenotype in an Hb S Trait Patient.

Uçucu, Süheyl; Karabiyik, Talha; Azik, Fatih M

IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/ß⁺-Thalassemia Phenotype in an Hb S Trait Patient.

Uçucu, Süheyl; Karabiyik, Talha; Azik, Fatih M.

Uçucu S; Department of Medical Biochemistry, Mugla Public Health Care Laboratory, Mugla, Turkey.
Karabiyik T; Department of Medical Biochemistry, Bursa City Hospital, Bursa, Turkey.
Azik FM; Department of Pediatric Hematology-Oncology, Faculty of Medicine, Mugla Sitki Koçman University, Mugla, Turkey.

Hemoglobin ; 45(4): 225-227, 2021 Jul.

Article en En | MEDLINE | ID: mdl-34396882

Asunto(s)

Rasgo Drepanocítico; Talasemia beta; Humanos; Mutación; Fenotipo; Globinas beta/genética; Talasemia beta/diagnóstico; Talasemia beta/genética

Palabras clave

Hb S trait; Hb S/ß+-thalassemia (Hb S/ß+-thal); Hb S/ß-thalassemia (Hb S/ß-Thal); IVS-II-16 (G>C); IVS-II-666 (C>T)

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Rasgo Drepanocítico / Talasemia beta Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

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