Objective To Investigate The Clinical Characteristics Of Hemophilia In Patients With Single Hemophilia. JOURNAL OF CLINICAL ONCOLOGY AND REHABILITATION. JOURNAL OF CLINICAL ONCOLOGY AND REHABILITATION

Objective:Resistance to glucocorticoids (GCs) is a tricky problem in therapy for immune thrombocytopenia (Immune thrombocytopenia, ITP). Because GCs exert their effects through glucocorticoid receptor (GR), being a GR gene, NR3C1is thought to connect with individual differences in glucocorticoid responsiveness during GCs treatments. We analyzed the frequency of three novel single nucleotide polymorphisms (SNPs) of NR3C1in ITP patients and evaluated the role of these genetic variants in GCs therapy.Methods:Four hundred and seventy-three patients with ITP and160healthy controls were recruited. Patients were allocated into GCs-responsive (n=358) and-non-responsive group (n=115). All subjects of the three groups were genotyped by PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism) method for the BelI, N363S and ER22/23EK polymorphisms. Assess the statistical differences of genotypes between ITP and controls, and those between GCs-responsive and non-responsive group.Results:In healthy controls, BclI-GG/GC/CC occurred with0.581/0.35/0.069frequency. In ITP patients, BclI-GG/GC/CC was found with0.617/0.353/0.03frequency. There was no statistically differences between ITP and controls (p=0.070). In GCs-responsive and-non-responsive group, BclI-GG, GC, CC occurred with frequencies of0.628/0.352/0.02and0.583/0.357/0.061respectively. No correlations in the variants of BelI was found between the GCs-responsive and-non-responsive group (p=0.086). Neither N363S nor ER22/23EK polymorphism was observed in all633participants.Conclusion:The Bell polymorphism is not related to response of glucocorticoids in patients with ITP. Furthermore, we did not observe N363S and ER22/23EK polymorphism in Chinese Han population. Background:Resistance to glucocorticoids (GCs) remains a tricky problem complicating the therapy of ITP (Immune thrombocytopenia, ITP). Recently, ATP binding cassette gene B1gene (ABCB1) was reported to be correlated with susceptibility and therapeutic efficacy of autoimmune diseases through P-glycoprotein (Pgp).Methods:We investigated three single nucleotide polymorphisms (SNPs) of ABCB1and their haplotypes by PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism) method in471ITP patients and383healthy controls, patients were further assigned into GCs-responsive and-non-responsive group according to the therapeutic effects of GCs.Results:We observed a remarkable difference in genotypes of G2677T/A between GCs-responsive and non-responsive group, but not between patients and controls. A frequently expression of T/A allele within G2677T/A was recorded in GCs-responsive group. Furthermore, we found that some haplotypes (CGC, CTC/CAC, CTT/CAT, TGC, TGT, TTC/TAC and TTT/TAT, in the order of position1236-2677-3435) were presented significantly differences between non-responsive and responsive group. No difference of C1236T and C3435T polymorphisms was observed between ITP and controls, and between the GCs-responsive and-non-responsive group.Conclusion:Our findings suggest that ABCB1polymorphisms, as well as haplotypes derived from C1236T, G2677T/A and C3435T, are associated with inter-individual differences of GCs treatment in ITP. Introduction:Hemophilia A (HA) and B (HB) are X-linked congenital disorders caused by deficiencies of Factor VIII and FIX. Being the world’s most populous country, China potentially has a large population of hemophilia patients. During the last decade, no studies have been published regarding the clinical information of hemophilia in China.Methods:A retrospective study was conducted in patients with HA and HB referred to Tianjin Hemophilia Center between2002and2012.Results:We identified1226males with hemophilia (1019HA and207HB). The results revealed that activate partial thromboplastin time was negatively correlated plasma factor level of person with hemophilia. Our data did not offer sufficient evidence of any relationship existed between disease severity and risk or site of haemorrhage. There was a trend toward a higher inhibitor incidence induced by plasma-derived factor VIII products, than by recombinant FVIII (rFVIII) alone. It seemed that second generation of rFVIII more likely developed inhibitor, and first generation of rFVIII was nevertheless more closely connected to high-titer inhibitor.Conclusion:we found that delay in diagnosis and blood-borne infections were significantly reduced, while the joint deformity rate did not decrease despite the wide variety of products to choose from in this decade. The development of inhibitor still remains a major challenge in replacement therapy in hemophilia. Objective:To analyze the clinical features, progress in the diagnosis and treatment of pediatric hemophilia in single center this decade.Methods:A retrospective study was conducted with hemophilic children treated in Institute of Hematology&Blood Diseases Hospital between January2002and December2012.Results:All of the patients with hemophilia enrolled were male (438HA and82HB). There were significant differences in APTT between severe and mild-to moderate hemophilia (P<0.01). In pediatric hemophilia with HA and HB, delay time were of1.42and1.17-year, respectively. Children of7-12years were the largest population of visiting a doctor, and the spontaneous bleeding episode was the main cause. The most common hemorrhage site was soft tissue in early childhood, but joint was increasingly affected with age growth. All bleeding sites and frequencies were not associated with plasma factor level of patient (P>0.05). Knee and ankle were mainly involved during early child development, while elbow and shoulder were involved increasingly in later childhood. Additionally, in HA and HB, anti-HCV-positive rate were2.8%(11/397) and2.5%(2/79), positive rates of inhibitor were8.9%(19/214) and12.8%(5/39), high titer inhibitor were78.9%(15/19) and40.0%(2/5), respectively.Conclusion:The present study highlights that delay in diagnosis and blood-borne infections were significantly reduced, but the development of inhibitor still remains a major challenge with wide-scale usage of factor in replacement therapy.