Can Factor XIIIa Antibody Reveal New Dimensions in Hemophilia Diagnosis and Treatment?

Hemophilia is a group of bleeding disorders caused by inherited coagulation dysfunction, characterized by impaired generation of active thromboplastin and significantly prolonged clotting time.

CardiovascularFactor XIIIa antibodyHemophiliaInheritance pattern

Recent Advances

I. What are the Clinical Features and Epidemiological Status of Hemophilia?
Hemophilia is a group of bleeding disorders caused by inherited coagulation dysfunction, characterized by impaired generation of active thromboplastin and significantly prolonged clotting time. Patients exhibit a lifelong tendency to bleed after minor trauma, with severe cases experiencing spontaneous bleeding even without apparent injury. This distinctive clinical presentation often leads to hemophilia patients being referred to as "glass people," as minor falls or collisions can result in severe bleeding and intense pain.

From an epidemiological perspective, the global incidence of hemophilia is relatively stable, with a total patient population of approximately 400,000 and an overall incidence of about 1 in 10,000. Hemophilia A (Factor VIII deficiency) accounts for 80-85% of cases, with an incidence of about 1 in 5,000 males. Hemophilia B (Factor IX deficiency) accounts for 15-20%, with an incidence of about 1 in 30,000. Female patients are extremely rare, but the prevalence of hemophilia is significantly higher in regions with frequent consanguineous marriages.

II. How is the Molecular Genetic Mechanism of Hemophilia Analyzed?
The pathogenesis of hemophilia is closely related to abnormalities in the coagulation cascade. In the normal blood clotting process, the extrinsic and intrinsic pathways, through a series of enzymatic activations, convert soluble fibrinogen into insoluble fibrin, forming a stable blood clot. When specific coagulation factors have genetic defects, this precise process is disrupted.

Hemophilia A stems from a deficiency or dysfunction of coagulation Factor VIII. The F8 gene is located at Xq28, spans 186 kb, and contains 26 exons. Homologous recombination involving F8A in intron 22 of this gene is the main mechanism leading to severe Hemophilia A, accounting for about 45% of severe cases. Additionally, inversions in intron 1 account for about 5% of severe cases. Other mutation types include missense mutations, large deletions, and insertion/deletion mutations; the type and location of these mutations directly affect disease severity.

Hemophilia B is caused by mutations in the Factor IX gene. The F9 gene is located at Xq27.1--q27.2, contains 8 exons, and codes for 461 amino acids. The mutation types in this gene are diverse, with over a thousand different mutation forms identified to date. These mutations lead to coagulation dysfunction by affecting the synthesis, processing, or function of FIX.

III. What are the Characteristics of Hemophilia's Inheritance Pattern?
Hemophilia is an X-linked recessive disorder, meaning the disease-causing gene is located on the X chromosome. This inheritance pattern determines the disease's transmission characteristics: male patients typically pass the defective gene to all their daughters, making them carriers, but not to their sons; female carriers have a 50% chance of passing the defective gene to their offspring, with male offspring potentially being affected and female offspring potentially being carriers.

Notably, approximately 30% of hemophilia patients have no clear family history; these cases may be caused by de novo mutations. In genetic counseling, understanding these inheritance patterns is crucial for assessing the disease risk of family members and making reproductive plans. Simultaneously, research on the function of other coagulation factors, like Factor XIIIa, also helps deepen the understanding of the overall regulatory network of the coagulation system.

IV. What are the Clinical Manifestations and Classification Criteria for Hemophilia?
The main clinical manifestation of hemophilia is prolonged bleeding after spontaneous events or minor trauma. The clinical presentations of Hemophilia A and B are similar, both characterized by soft tissue or deep muscle hematomas, with bleeding into weight-bearing joints like knees and ankles being particularly prominent. Other common manifestations include gastrointestinal bleeding, urinary tract bleeding, central nervous system bleeding, and prolonged oozing after trauma, tooth extraction, or surgery.

Based on coagulation factor activity levels, hemophilia is classified into three types: mild, moderate, and severe. Mild patients have factor activity between 5-40% and typically experience excessive bleeding only after trauma or surgery. Moderate patients have activity between 1-5%, with bleeding frequency and severity intermediate between mild and severe. Severe patients have activity below 1%, experiencing an average of 20-30 spontaneous bleeding episodes per year, particularly in joints and muscles.

V. What is the Value of Coagulation Factor Testing in Diagnosis?
Diagnosing hemophilia requires integrating clinical presentation, family history, and laboratory test results. Traditional coagulation function tests include prothrombin time (PT) and activated partial thromboplastin time (APTT), but these can only suggest the presence of a coagulation disorder, not identify the specific deficient coagulation factor type.

Specific coagulation factor activity assays are key to confirming the diagnosis of hemophilia. Measuring FVIII or FIX activity levels not only provides a definitive diagnosis but also allows for disease classification, guiding treatment decisions. In recent years, advances in genetic testing have made direct detection of F8 and F9 gene mutations possible, which aids not only in diagnosis but also provides an important basis for genetic counseling and prenatal diagnosis.

VI. What is the Research Progress on Novel Detection Markers?
With the deepening of research into coagulation mechanisms, researchers have begun exploring the value of more coagulation factors in hemophilia diagnosis and treatment. Among them, Factor XIIIa, as a key enzyme in the coagulation process, its functional status may affect clot stability. Factor XIIIa antibodies are used in research to explore the expression and functional changes of this factor in hemophilia patients. These studies help to more comprehensively understand the pathophysiological process of hemophilia.

Current research indicates that although Factor XIII is not the direct cause of hemophilia, its functional status may influence the patient's clinical presentation and bleeding severity. In-depth research on auxiliary coagulation factors like Factor XIIIa may provide new ideas for the individualized treatment of hemophilia. In the future, assessment systems based on combined multi-factor testing are expected to provide hemophilia patients with more precise diagnosis and more effective treatment plans.

VII. Which Manufacturers Provide Factor XIIIa Antibodies?
Hangzhou Start Bio-tech Co., Ltd.'s self-developed "S-RMab® Factor XIIIa Recombinant Rabbit Monoclonal Antibody" is a high-performance antibody product characterized by high specificity, excellent sensitivity, and exceptional staining consistency. This product is ideal for applications in dendritic cell identification, diagnosis of skin fibrous lesions, and wound healing research.

Product Core Advantages:

Advantage Feature	Detailed Description
High Specificity & Clear Localization	Precisely recognizes Coagulation Factor XIII A chain (F13A1), demonstrating excellent cytoplasmic staining specificity in FFPE samples, clearly labeling dermal dendritic cells, macrophages, etc., with clean background and accurate localization, providing a reliable basis for precise interpretation.
Excellent Staining Stability & Batch Consistency	Under strict quality control standards, the product exhibits excellent staining stability and minimal batch-to-batch variation, ensuring high comparability of results across different laboratories and experimental batches, providing stable support for clinical diagnosis and basic research.

Suitable Key Application Scenarios:

Application Area	Specific Use
Skin Dendritic Cell Identification	Serves as a specific marker for dermal dendritic cells, used for the identification and quantitative analysis of dendritic cells in skin inflammatory diseases, cutaneous lymphoma, and other lesions.
Fibrohistiocytic Tumor Diagnosis	Aids in the diagnosis and differential diagnosis of fibrohistiocytic tumors such as dermatofibroma and atypical fibroxanthoma.
Wound Healing & Fibrosis Research	For studying granulation tissue formation during wound healing and exploring the mechanisms of fibrotic diseases.
Liver & Lymph Node Lesion Research	For the identification of hepatic stellate cells, lymph node interdigitating dendritic cells, and related disease research.

Professional Technical Support: We provide detailed product technical documentation, including complete IHC experimental protocols, optimized antigen retrieval methods, and professional interpretation guidance, fully committed to assisting customers in obtaining accurate and reliable results in dermatopathology and immunology research.

Hangzhou Start Bio-tech Co., Ltd. is always dedicated to providing high-quality, high-value biological reagents and solutions for global innovative pharmaceutical companies and research institutions. For more details about the "S-RMab® Factor XIIIa Recombinant Rabbit Monoclonal Antibody" or to request a sample test, please feel free to contact us.

Product Information
 

Catalog Number	Product Name	Product Parameters
S0B2270P	Factor XIIIa Recombinant Rabbit mAb,PBS Only (SDT-644-7)	Host : Rabbit Conjugation : Unconjugated
S0B2264P	S-RMab® Factor XIIIa Recombinant Rabbit mAb,PBS Only (SDT-R278)	Host : Rabbit Conjugation : Unconjugated
S0B2270	Factor XIIIa Recombinant Rabbit mAb (SDT-644-7)	Host : Rabbit Conjugation : Unconjugated
S0B2264	S-RMab® Factor XIIIa Recombinant Rabbit mAb (SDT-R278)	Host : Rabbit Conjugation : Unconjugated