1.
Clin Biochem
; 94: 80-82, 2021 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33901469
RESUMO
Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the ß 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).