Objective:To evaluate the long-term efficacy and safety of recombinant coagulation factor Ⅷ (Octocog alfa) in Chinese patients with hemophilia A (HA) enrolled in the International Antihemophilic Factor Hemophilia A Outcome Database (AHEAD) study (NCT02078427) .Methods:Enrollment of Chinese patients in the AHEAD study was completed by January 2021, and data were collected up to July 15, 2022. This study primarily assessed patients in terms of the Gilbert score, global gait score within the Hemophilia Joint Health Score (HJHS), annualized bleeding rate (ABR), annualized joint bleeding rate, and adverse events.Results:A total of 168 male patients were included in this study, of which 113 received prophylactic treatment and 53 received on-demand treatment. The average age of the patients was 21.4±13.37 years. Compared with baseline, the global gait score within HJHS significantly decreased during the 1-year follow-up in patients with moderately severe HA in the prophylactic treatment group ( P=0.01) and on-demand treatment group ( P=0.008). The mean reduction in Gilbert score was greater in the prophylactic treatment group than in the on-demand treatment group (28.6% vs 8.2%). The average ABR decreased significantly during the 1-year follow-up (3.70 vs 7.78, P=0.01) in the prophylactic treatment group, particularly in patients with severe HA (2.14 vs 8.98, P=0.006) and pediatric patients (2.1 vs 4.73, P=0.03). The ABR score also decreased significantly in the moderate-dose prophylactic treatment group ( P=0.015). During the 1-year follow-up, 25 patients (14.9%) reported 39 adverse events, with only one patient developing treatment-related F Ⅷ inhibitor. Conclusion:Joint mobility improved in patients receiving either prophylactic or on-demand Octocog alfa. Bleeding episodes significantly reduced in patients receiving prophylactic treatment, particularly in pediatric patients and those with severe HA.

As a rare disease, hemophilia is the optimal one for hierarchical diagnosis and treatment. Under the guidance and support of National Health Commission of the People's Republic of China and related organization, Hemophilia Treatment Center Collaborative Network of China has explored the establishment of the hierarchical system for the diagnosis and treatment of hemophilia in China, which contributed to the improvement of hemophilia care in China and in the meantime, shared the experience for other diseases and disciplines.

As a rare disease, hemophilia is the optimal one for hierarchical diagnosis and treatment. Under the guidance and support of National Health Commission of the People's Republic of China and related organization, Hemophilia Treatment Center Collaborative Network of China has explored the establishment of the hierarchical system for the diagnosis and treatment of hemophilia in China, which contributed to the improvement of hemophilia care in China and in the meantime, shared the experience for other diseases and disciplines.

Objective:To evaluate the long-term efficacy and safety of recombinant coagulation factor Ⅷ (Octocog alfa) in Chinese patients with hemophilia A (HA) enrolled in the International Antihemophilic Factor Hemophilia A Outcome Database (AHEAD) study (NCT02078427) .Methods:Enrollment of Chinese patients in the AHEAD study was completed by January 2021, and data were collected up to July 15, 2022. This study primarily assessed patients in terms of the Gilbert score, global gait score within the Hemophilia Joint Health Score (HJHS), annualized bleeding rate (ABR), annualized joint bleeding rate, and adverse events.Results:A total of 168 male patients were included in this study, of which 113 received prophylactic treatment and 53 received on-demand treatment. The average age of the patients was 21.4±13.37 years. Compared with baseline, the global gait score within HJHS significantly decreased during the 1-year follow-up in patients with moderately severe HA in the prophylactic treatment group ( P=0.01) and on-demand treatment group ( P=0.008). The mean reduction in Gilbert score was greater in the prophylactic treatment group than in the on-demand treatment group (28.6% vs 8.2%). The average ABR decreased significantly during the 1-year follow-up (3.70 vs 7.78, P=0.01) in the prophylactic treatment group, particularly in patients with severe HA (2.14 vs 8.98, P=0.006) and pediatric patients (2.1 vs 4.73, P=0.03). The ABR score also decreased significantly in the moderate-dose prophylactic treatment group ( P=0.015). During the 1-year follow-up, 25 patients (14.9%) reported 39 adverse events, with only one patient developing treatment-related F Ⅷ inhibitor. Conclusion:Joint mobility improved in patients receiving either prophylactic or on-demand Octocog alfa. Bleeding episodes significantly reduced in patients receiving prophylactic treatment, particularly in pediatric patients and those with severe HA.

Objective:To enhance the understanding of hereditary protein C deficiency.Methods:A case of a child with severe hereditary protein C deficiency, presenting with recurrent muscle bleeding as the primary clinical manifestation, was reported. The diagnostic and treatment were detailed, and relevant literature was reviewed.Results:The patient, a 2-year-old girl, was admitted with "recurrent muscle hematomas for more than 2 years and intracranial hemorrhage for 3 months." Ecchymosis was observed on the skin of the left calf, with localized warmth detected on palpation. Muscle strength and tone in both lower limbs were within normal limits. The left thigh circumference measured 35.6 cm, compared to 29 cm on the right. Laboratory tests showed decreased fibrinogen, coagulation factor XIII activity, protein C activity, and significantly elevated fibrin degradation products (FDP) and D-dimer levels. Genetic testing identified compound heterozygous mutations in the PROC gene: c.565 (exon 7) C>T and c.983_988 (exon 7) del GCGAGC. The patient was diagnosed with hereditary protein C deficiency and disseminated intravascular coagulation (DIC). Treatment with fibrinogen supplementation, fresh frozen plasma, and anticoagulation therapy led to clinical improvement.Conclusion:The clinical manifestations of hereditary protein C deficiency are highly heterogeneous. While neonatal purpura fulminans is a common presentation, recurrent bleeding can also serve as a primary clinical manifestation.

Acute promyelocytic leukemia (APL) is characterized by an aggressive onset and rapid progression. During induction chemotherapy, it is prone to being complicated by disseminated intravascular coagulation (DIC), which is a leading cause of early death in patients. This study reports a case of APL complicated by DIC during induction therapy with all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO). The patient's coagulopathy was corrected through active transfusion of blood products and replacement therapy with coagulation factors. Subsequently, complete remission was achieved after multiple courses of chemotherapy. This article provides a detailed description of the patient’s disease onset and treatment process, exploring the differences in pathogenesis, clinical presentation, and treatment strategies between APL-associated DIC and DIC caused by other diseases, alongside a review of the relevant literature.

Acute Myeloid Leukemia with t (8;16) (p11;p13) is a rare subtype of AML. This article presents a retrospective analysis of a 19-year-old female patient with t (8;16) (p11;p13) AML, focusing on her clinical features and treatment course, alongside a review of relevant literature. The patient was admitted due to skin ecchymosis and gastrointestinal bleeding, rapidly progressing to disseminated intravascular coagulation. Bone marrow examination revealed an abnormal blast morphology resembling early promyeloblasts, and the initial diagnosis was acute promyelocytic leukemia. However, chromosomal analysis identified the t (8;16) (p11.2;p13.3) translocation. The patient was finally diagnosed with acute monocytic leukemia. Following intensive induction chemotherapy, she achieved complete remission, but relapse occurred during consolidation therapy. The overall prognosis was poor. AML with t (8;16) (p11;p13) is relatively rare and characterized by distinct clinical and laboratory features, with a generally unfavorable prognosis. Early recognition by clinicians is crucial for appropriate management.

The Hypoprothrombinemia-Lupus Anticoagulant Syndrome (HLAS) is a rare coagulation disorder, typically presenting with bleeding manifestations. It is characterized by decreased prothrombin activity and the presence of lupus anticoagulant, but laboratory findings are complex, which can delay diagnosis and treatment. This report describes the diagnosis and management of a HLAS patient who was an 11-year-old girl with recurrent bleeding. Coagulation tests revealed prolonged APTT and PT, decreased prothrombin activity, and immediate inhibitory antibodies in the APTT correction test. Lupus anticoagulant, antiphospholipid antibodies, anti-β 2-glycoprotein 1 antibodies, and phosphatidylserine/prothrombin (aPS/PT) antibodies were positive, leading to a diagnosis of Hypoprothrombinemia-Lupus Anticoagulant Syndrome. The patient was also diagnosed with systemic lupus erythematosus. Following corticosteroid therapy, prothrombin activity returned to normal.

Objective:To enhance the understanding of hereditary protein C deficiency.Methods:A case of a child with severe hereditary protein C deficiency, presenting with recurrent muscle bleeding as the primary clinical manifestation, was reported. The diagnostic and treatment were detailed, and relevant literature was reviewed.Results:The patient, a 2-year-old girl, was admitted with "recurrent muscle hematomas for more than 2 years and intracranial hemorrhage for 3 months." Ecchymosis was observed on the skin of the left calf, with localized warmth detected on palpation. Muscle strength and tone in both lower limbs were within normal limits. The left thigh circumference measured 35.6 cm, compared to 29 cm on the right. Laboratory tests showed decreased fibrinogen, coagulation factor XIII activity, protein C activity, and significantly elevated fibrin degradation products (FDP) and D-dimer levels. Genetic testing identified compound heterozygous mutations in the PROC gene: c.565 (exon 7) C>T and c.983_988 (exon 7) del GCGAGC. The patient was diagnosed with hereditary protein C deficiency and disseminated intravascular coagulation (DIC). Treatment with fibrinogen supplementation, fresh frozen plasma, and anticoagulation therapy led to clinical improvement.Conclusion:The clinical manifestations of hereditary protein C deficiency are highly heterogeneous. While neonatal purpura fulminans is a common presentation, recurrent bleeding can also serve as a primary clinical manifestation.

Acute promyelocytic leukemia (APL) is characterized by an aggressive onset and rapid progression. During induction chemotherapy, it is prone to being complicated by disseminated intravascular coagulation (DIC), which is a leading cause of early death in patients. This study reports a case of APL complicated by DIC during induction therapy with all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO). The patient's coagulopathy was corrected through active transfusion of blood products and replacement therapy with coagulation factors. Subsequently, complete remission was achieved after multiple courses of chemotherapy. This article provides a detailed description of the patient’s disease onset and treatment process, exploring the differences in pathogenesis, clinical presentation, and treatment strategies between APL-associated DIC and DIC caused by other diseases, alongside a review of the relevant literature.