Onimoe Grace, Smarzo Genine
Cleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Case Rep Hematol. 2017;2017:9265396. doi: 10.1155/2017/9265396. Epub 2017 Sep 17.
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the -globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-()-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-()-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.
镰状细胞病（SCD）由11号染色体上β-珠蛋白基因第六密码子的突变引起，该突变导致单个氨基酸替换（谷氨酰胺替换为缬氨酸）。镰状β地中海贫血是镰状细胞病的一种罕见变体（δ-β地中海贫血与镰状血红蛋白HbS同时出现），文献报道较少，且与需要仔细监测和随访的症状相关。我们描述了一名患者，其新生儿筛查报告为“FS”，且镰状细胞病和镰状细胞性状家族史阴性。随后的基因测序研究证实存在镰状β地中海贫血。该患者目前18个月大，临床病程相对稳定，无任何与SCD相关的症状或并发症。由于这是一种具有潜在并发症的SCD罕见变体，因此为规划全面护理而进行诊断非常重要。
