SCD is a multisystem disease, associated with episodes of acute illness and progressive organ damage and is one of the most common severe monogenic disorders worldwide [1, 2]. Sickle cell anemia (HbSS/HbS-Beta thalassemia zero) accounts for 70% of cases of sickle cell disease in populations of African ethnicity, with most of the remainder having hemoglobin SC disease (HBSC disease) due to the coinheritance of the ?s and ?c alleles [2, 3]. HbS/?-thalassemia occurs when ?s is inherited with a ?-thalassemia allele and is a variable disorder depending on the type of ?-thalassemia mutation [2]. Ten further genotypes that cause SCD have been described, although most are rare [2]. Nine cases of homozygous and compound heterozygote ??-thalassemia have been reported [4, 5]. We report a case of Sicilian (??) 0 -thalassemia, which is a rare variant of SCD.

۲٫ Case Presentation

We report an 18-month-old Caucasian female who presented at 3 weeks of age with an abnormal newborn screen reported as “FS” ( fetal hemoglobin, sickle hemoglobin) indicating the presence of SCD. Family history included a Southern European ancestry and was negative for SCD/sickle cell trait in family members. There was a remote history of thalassemia trait in maternal grandmother. Physical examination was unremarkable and laboratory testing by high-performance liquid chromatography (HPLC) reported the absence of Hemoglobin A, predominant presence of Hemoglobin F (89.8%), and the presence of Hemoglobin S (10.2%); this was interpreted as the presence of sickle cell disease. Complete blood count (CBC) revealed a hemoglobin count of 16 g/dl, leukocyte count of 4820 k/uL, and reticulocyte count of 1.5% and MCV was 92.3 fL. Sickle cell disease counseling was completed and penicillin prophylaxis was initiated. Repeat HPLC evaluation showed the absence of HbA, HbS 50%, HbA2 2.9%, and HbF at 46.2%. (Table 1).