In SC hemoglobinopathy, a rare type of sickle cell disease, patients may experience vaso-occlusive phenomena, but in a milder condition than in the SS form.

This current study aims to present a case of a patient with SC hemoglobinopathy, who received a late diagnosis, and its clinical evolution.

This is a case report in which the patient's clinical condition was detailed based on the analysis of medical records. In addition, a literature review on SC hemoglobinopathy was also performed.

A 52-year-old female patient was diagnosed with SC hemoglobinopathy at the age of 45 after investigation of a single episode of arthralgia due to vaso-occlusive crisis, accompanied by anemia. At the time of diagnosis, she had moderate macrocytic anemia and the other blood count parameters were normal. Her hemoglobin electrophoresis showed the following levels of hemoglobin S: 49.2% and C: 43.1%. Since then, she has been using hydroxyurea 500 mg/day and folic acid 5 mg/day, which keep her hemoglobin above 9 g/dL, and she is asymptomatic from the point of view of anemia. The patient was instructed to undergo annual follow-up with an ophthalmologist and to practice physical exercises accompanied by a physical education teacher. Except for the slight skin pallor, the other physical examination data were normal in all clinical evaluations in these seven years after diagnosis, including absence of splenomegaly and ophthalmological impairment.

The patient had a late diagnosis at the age of 45, after an isolated episode of arthralgia. This can be explained by certain factors, such as: the development of hemoglobinopathy SC, a milder variant of sickle cell disease that manifests its symptoms later, originating the condition with the vaso-occlusive crisis, as in the case of the patient. Furthermore, another relevant factor for this case is that at the time of the patient's birth, it was not possible to screen for hemoglobinopathies through neonatal screening tests, because it was only introduced in Brazil in 1976, years after the patient's birth. It is observed a prevalence of 3.7% of hemoglobinopathies in the adult population in Brazil, with 2.2% being sickle cell diseases, and 30% of this value being hemoglobinopathy SC. The use of hydroxyurea, folic acid, and guidance on lifestyle contributed to the patient not experiencing a worsening of the condition, as hydroxyurea decreases the synthesis of HbS and HbC from the production of fetal hemoglobin, and the synthesis of endothelial adhesion molecules and endogenous nitric oxide, thus preventing vaso-occlusive crises, besides the other complications of this disease. In the case of hemoglobinopathy SC, it presents lower rates of morbidity and mortality due to its lesser severity and appropriate treatment that prevents the complications which are responsible for reducing the life expectancy of these patients. Just like the example of the patient in the case, who after 7 years since the diagnosis and with the appropriate treatment, is asymptomatic and with the disease under control, ensuring a better prognosis and a higher life expectancy.

The description of the case highlights the need for further epidemiological studies to obtain more information regarding the incidence/prevalence of the disease, clinical manifestations, diagnosis, treatment, complications, and prognosis, including the life expectancy associated with late diagnosis.