ABSTRACT
BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia in the majority of cases. Nevertheless, some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT. Novel management approaches is necessary to be developed. To explore the response of luspatercept in treating congenital sideroblastic anemia. CASE SUMMARY: We share our experience in luspatercept in a 4-year-old male patient with CSA. Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk, three consecutive doses, evaluating the hematological response. Luspatercept leading to a significant improvement in the patient's anemia. The median hemoglobin during the overall treatment with three doses of luspatercept was 90 (75-101) g/L, the median absolute reticulocyte count was 0.0593 (0.0277-0.1030) × 1012/L, the median serum ferritin was 304.3 (234.4-399) ng/mL, and the median lifespan of mature red blood cells was 80 (57-92) days. Notably, no adverse reactions, such as headaches, dizziness, vomiting, joint pain, or back pain, were observed during the treatment period. CONCLUSION: We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
ABSTRACT
BACKGROUND: Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS. CASE SUMMARY: A 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing (NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin. CONCLUSION: The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.
ABSTRACT
BACKGROUND: A case-control study was conducted to evaluate the influence of interleukin (IL)-17A and -17F gene polymorphisms on the risk of primary chronic immune thrombocytopenia (ITP). METHODS: The study included 146 Chinese chronic ITP patients and 137 healthy controls. IL-17A G197A and IL-17F A7488G polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: No significant difference in frequencies of IL-17A G197A genotypes and alleles was found between ITP patients and healthy controls, whereas frequencies of IL-17F A7488G allele A were significantly higher in ITP patients than that in healthy controls (31.85% vs. 18.98%; P<0.01). More specifically, patients with ITP had significantly higher frequencies of the IL-17F A7488G AA and AG genotypes compared with healthy controls (AA: 17.12% vs. 9.49%, P=0.02; AG: 29.46% vs. 18.98%, P=0.02). Logistic regression analysis revealed that AA and AG genotypes of IL-17F A7488G were associated with increased risk of ITP (AA: odds ratio (OR)=2.33, 95% CI 1.11-4.89; AG: OR=2.03, 95% CI 1.14-3.61). CONCLUSIONS: Our results suggest that SNPs in IL-17F A7488G but not IL-17A are associated with the development of chronic ITP in China.