Hemophilia Disease

Published Date : Sep 2023
Category : Genetic Diseases
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The Service Architecture for Hemophilia

“Fighting the Hemophilia: Generating the Health Benefits, Exploring the Market”

To fight against bleeding disorders like Hemophilia is a quest to stay healthy and be safe. A total of 1.1 million people are suffering from Hemophilia in the world as per NIH. Researchers are working to combat Hemophilia by developing innovative diagnostic and treatment techniques. Key players grasp the opportunities in the domain of the Hemophilia treatment & diagnostic industry by using DiseaseLandscape Insight services.

Worldwide, Hemophilia affects every ethnic and racial group equally. One in 10,000 live births is estimated to be affected by Hemophilia, and there are roughly 400,000 cases of Hemophilia globally per year stated to the CDC. Furthermore, every year, around 400 newborns are born with Hemophilia.

Hemophilia is the most prevalent severe hereditary hemorrhagic disease in which blood is unable to clot. Hemophilia patients have low levels of either clotting factor VIII or factor IX. The amount of clotting factors in a person's blood determines the severity of Hemophilia.

However, Hemophilia is caused by a mutation in one of the genes, which codes for the proteins that make the clotting factor necessary for a blood clot. Over 1000 mutations have been found in the genes that code for factor VIII and IX, and about 30% of these variations are the result of spontaneous mutation according to NIH.

Patients with Hemophilia show various symptoms that are bleeding into the joints, head, skin, mouth, and gums. Also large and deep bruises, blood in urine and stool, and lethargy. However, the risk factors for Hemophilia include family history and people with only one X chromosome.

Hemophilia is categorized into 3 types based on a deficiency in a class of clotting factors. The following chart shows the type of Hemophilia and the percentage of the total population suffering from a particular type.

As shown in the above chart, Hemophilia A due to deficiency of factor VIII is the most common type and accounts for 85% of the total Hemophilia population. However, Hemophilia B which occurs due to a lack of factor IX measures up to 10% of the total population. On the other hand, Hemophilia C caused by an absence of factor XI, measures least percentage which is 5% among the total population.

In addition to that, Hemophilia affects more commonly to male than women because genes for clotting factors are present on the X-chromosome, and males contain only one X-chromosome. Hemophilia A affects 1 in every 5,000 live births, whereas Hemophilia B affects 1 in every 30,000 live male births. Whereas, Hemophilia C affects one in every 100,000 live male births.

Launching new diagnostic tools, innovative therapy and techniques is an important part of the Hemophilia market which is increasing the various opportunities for the industry player to grow their business. Consequently, it aids in the globalization of the expanded objects.

DiseaseLandscape Insights aid in making knowledgeable choices in the field of healthcare equipment, therapies, and diagnostics, where diverse technologies and developments will influence the landscape, driving higher expansion.

Hemophilia Diagnostic Analysis-

“From Early Diagnosis to Healthy Perfection”

Diagnosis of Hemophilia is done by various tests. Clinicians start the diagnosis with a complete medical history of the patient and a physical examination. The following tests are performed to diagnose Hemophilia.  

1. Screening Test-

Screening tests are blood tests performed to check the proper clotting of blood in the patients and the number of various cells involved in the clotting of blood. The following are the types of screening tests-

  • Complete Blood Count (CBC) - CBC test is performed to check the amount of hemoglobin, the size, and number of red blood cells, and the number of WBCs and platelets in the patient. People suffering from Hemophilia show low counts of RBCs, WBCs, and platelets.
  • Activated Partial Thromboplastin Time (APTT) Test – The APTT test is used to measure the time taken by clotting factors VIII, IX, XI, and XII to clot the blood. The PTT test exhibits fewer side effects such as bleeding, infection, bruises, and dizziness.
  • Prothrombin Time (PT) Test – The PT test measures the time taken by clotting factors I, II, V, VII, and X to clot the blood. A PT test aids in determining the root cause of clotting or bleeding issues. Additionally, it examines the effectiveness of a blood clot-preventing medication.
  • Fibrinogen Test – Fibrinogen tests assess the ability of patients to form a blood clot. This test is conducted in addition to other blood clotting tests. A fibrinogen test is performed when a patient shows abnormal results for APTT and PT tests. 

2. Clotting Factor Test - 

To identify a Hemophilia condition, clotting factor tests, also known as factor assays, are recommended. The type and severity of Hemophilia are revealed by this test. To develop the most effective treatment strategy, it is essential to understand the kind and severity of the disease. 

3. DNA Test

A DNA test is used to search for mutations in clotting factor VIII and IX genes that give rise to Hemophilia in a kid or adult. DNA test helps to confirm whether the patient is a carrier for Hemophilia or it is affected. Globally ~30% of hemophilic patients are due to mutations in the gene.

Among all the tests listed above, the clotting factor test or factor assay is the most accurate test to diagnose Hemophilia. The clotting factor test targets the main biomarker of Hemophilia which is the level of clotting factor. In addition to that, factor assay tests help in the identification of the type of Hemophilia as well as the severity of the disease, the main criteria required to select the treatment plan for the patient.

The global Hemophilia diagnostic market is highly competitive and continuously growing. Market players have scope in the development of various diagnostic kits by using new technologies. Along with that launching of cost-efficient and quick diagnostic tests is important in the diagnostic field of Hemophilia.

DiseaseLandscape Insights supports industry participants in the creation of various diagnostic kits, and the application of new technologies to improve existing diagnostic methods. Along with that, DLI also offers data about current market competitors and their products to get a better understanding of market dynamics. By using the data from DLI, stakeholders choose the path of their business and implement strategies for the growth of the market.

The following table lists the names of the market leaders who are redefining healthcare with their forefront diagnostic innovations:

                                                                           Diagnostic Market Player

Screening Test

Clotting Factor Test

DNA Test

Fortis Healthcare

University of Malaya Medical Centre.


Roche Ltd.

Denver Health


Cipla Limited



Denver Health

Roche Ltd.

Elitech Group

Aga Khan University Hospital

Spectrum Health


Columbia Asia Referral Hospital

Novartis AG



                                                                                Diagnostic Products

Screening Test

Clotting Factor Test

DNA Test

Pacific Hemostasis™


AncestryDNA kit



Paternity DNA test




PT2 Professional PT/INR Meter Promo


MyHeritage DNA test kits

Coag-Sense PT2 Self-Test PT/INR Meter



Hemophilia Treatment Analysis –

“Safeguarding Good Health: Evaluating Modern Improvements in Hemophilia Treatment"

There are various types of treatment available for Hemophilia. Depending on the severity and type of Hemophilia therapies are given to the patients. The following are the types of therapies available-

  • Factor Replacement Therapy - The most effective treatment for Hemophilia is to replace the missing blood clotting factor, enabling the blood to clot normally. This is usually accomplished by infusing therapy items known as clotting factor concentrates into a vein of patients. There are two main clotting factor concentrates available which are given below-
  • Plasma-derived Factor Concentrates- Plasma-derived factor concentrates are obtained from human plasma. Plasma from the blood of humans is processed and tested for various infecting agents and then separated for clotting factors. These clotting factors are then freeze-dried to use as a concentrate.
  • Recombinant Factor Concentrates – Recombinant factor concentrates are derived from genetically modified organisms by using rDNA technology. The Food and Drug Administration (FDA) of the United States approved recombinant factor VIII (8) concentrate that is not extracted from human plasma.
  • Non-Factor Replacement Therapy -Non-factor replacement therapy products aid in preventing bleeding or improving clotting by using methods other than factor replacement therapy in the body. Non-factor replacement therapies include-
  • Desmopressin – Desmopressin is a hormone that stimulates the body to secrete more clotting factors to stop the bleeding in the patient. It is used in mild Hemophilia. Desmopressin is injected into the vein or else it is used as a nasal spray.
  • Emicizumab (Hemlibra) - Emicizumab (Hemlibra) is a modern medication that does not include clotting factors. In persons with Hemophilia A, this medication helps avoid bleeding episodes.
  • Clot-Preserving Medications - Clot-preserving medications also referred to as anti-fibrinolytic, work to prevent clots from breaking. Headache, nausea, diarrhea, and stomach cramps are all usual side effects of clot-preserving medications.
  • Fibrin Sealants - To promote clotting and healing, fibrin sealants are often administered directly to the locations of the wounds. For dental procedures, fibrin sealants are extremely beneficial. They are applied for 2 weeks twice a day at the bleeding site in the Hemophilia patient. 
  • Gene Therapy -Gene therapy is a method of treating a genetic disease by giving patients functional copies of the defective gene. Gene transfer and gene editing are two separate methods used in gene therapy for the treatment of Hemophilia.
  • Currently, gene therapies for Hemophilia A and B produce diverse outcomes and operate in the body differently. The FDA has authorized Hemophilia B gene therapy for the treatment of Hemophilia B adults who are presently receiving factor IX (FIX) prophylactic medication, have experienced recent or past life-threatening hemorrhage, or have had several, severe spontaneous bleeding episodes.

Industry players have various opportunities in the treatment field of Hemophilia. Development of various cost-efficient treatment products, and redevelopment of existing therapies by using new technologies and innovations in gene therapy products to improve patient health while expanding the business are the domains where key players can enter and generate tremendous revenue.

DiseaseLandscape Insights supports the market participants to transform and expand in the treatment domain of Hemophilia to improve patient retention, explore innovations in the treatment area, and achieve new business heights.

With our extensive study of treatment choices, service contributions, product inventories, and market competitiveness, DLI allows market participants to stay one step ahead of the competition. As a devoted partner to the pharmaceutical sector, we offer extensive support in carrying out and evaluating clinical studies for the development of novel drugs.

The worldwide Hemophilia Disease market is highly fragmented and owes a prominent market player with a global presence. The market leaders in the table below are reinventing the landscape and pushing innovation to achieve better public health outcomes.

                                                                               Treatment Key Players

Factor Replacement Therapy

Non-Factor Replacement Therapy

Gene Therapy



CSL Behring


Spark Therapeutics

BioMarin Pharmaceutical

Novo Nordisk


Alnylam Pharmaceuticals

Emergent BioSolutions

Chameleon Biosciences

Dimension Therapeutics

Catalyst Biosciences

Asklepios BioPharmaceutical


OPKO Health





                                                                      Treatment Products

Factor Replacement Therapy

Non-Factor Replacement Therapy

Gene Therapy

CB 2679d/Isu 304





DTX101 AAVrh10 FIX










BAY 949027


Berinin P.


Services Provided by DiseaseLandscape Insights in the Continuously Expanding Hemophilia Disease Market

DiseaseLandscape Insights provide intensive knowledge about healthcare components and the market pyramid to the stakeholders. DLI services assist the market player in drug discovery, safety, and efficacy of drugs along with supply chain collaboration and long-term planning for disease dynamics.

DiseaseLandscape Insights offers comprehensive data management services for clinical and drug safety concern. We also provide documents related to the research, novel drugs, and other medication. Stakeholders get knowledge of journal articles, abstracts for publications, instructional and marketing materials, and the websites of various medical organizations from the DLI services.

The business element of Hemophilia focuses on a variety of services and goods, ranging from management and prevention to further treatment and research. The following are the services provided to begin the process of removing the epidemic.

  • To improve public health research is going on in various institutes. However, on January 2022 2seventy Bio announced that it had signed a licensing agreement with Novo Nordisk to collaborate on the research and development of an in vivo gene editing therapy for hemophilia A. This arrangement expands on the two companies' current fruitful multi-year research relationship.

Regulatory Framework for Hemophilia-

"Protecting Public Health: Building a Stable Regulatory Framework for Hemophilia”

DiseaseLandscape Insights have significantly simplified the regulatory structure for key players who have a presence in Hemophilia disease landscape. DLI helps the stakeholders to understand the import/export laws, surveillance, and regulatory design of different countries. Key players can adequately mitigate, handle and respond to the epidemics of Hemophilia by considering the well-being of the affected population.

However, to detect Hemophilia accurately and provide proper care to the patient, there are centers established by WHO.  Hemophilia Comprehensive Care Center and Hemophilia Treatment Center keep records of Hemophilia across the globe, provide access to various laboratories and hospital to patients, and helps to initiate research in the Hemophilia domain.

Moreover, to keep the records of treatment therapy the registry is established. The Gene Therapy Registry (GTR) is a registry to collect the data of Hemophilia patients who receive gene therapy across the globe. GTR collects the information from Hemophilia treatment centers and stores it for future use.

Competitive Analysis-

Several international industries are concentrating on manufacturing new products and enhancing the use of technology to improve current processes to increase their level of competition. Industries are also concentrating on ways to expand their product offerings, most commonly through collaborations, an emphasis on cooperation, and regulatory approval for new drugs, medical research, and devices.

However, competitors like Pfizer and Sangamo Therapeutics announced in September 2022 that the Phase III AFFINE trial assessing giroctocogene fitelparvovec, an experimental gene treatment for individuals with moderately severe to severe hemophilia A, had re-opened recruitment. The approval for trial has increased the awareness of the product in the market and eventually the market standard of Pfizer and Sangamo Therapeutics.

In addition to that, companies like UniQure reported in May 2022 that the FDA has approved the Biologics License Application (BLA) for etranacogene dezaparvovec which is a gene therapy product for priority review. In November 2022 etranacogene dezaparvovec was approved by FDA for the treatment of Hemophilia B. The launching of this gene therapy product has increased the overall revenue of UniQure. This innovation has set the standard for other key players that exist in the market.

DiseaseLandscape Insights helps the industry player by providing intense knowledge about all the existing market players, their innovations, strategies, and collaborations and helps in selecting the correct marketplace to grow exponentially.

Market Trends-

“Reviewing Market Dynamics to Accelerate the Business”

The market is expanding because of the development of various drugs for the treatment of Hemophilia. Several researchers are working on techniques for accurate biomarker findings and effective therapy product developments. Market players have various opportunities in the diagnostic as well as treatment fields. Research on factor replacement therapy and gene therapy helps the market player to grow globally.

To improve the patient health and effectiveness, safety, and durability of Hemophilia gene replacement therapy, the use of next-generation gene treatments that incorporate chimeric DNA sequences in the transgene is now trending in the market. Research and developments in next-generation gene treatments are the strong business area for industry players.

Moreover, the leading pharmaceutical industries also concentrate on anti-tissue factor pathway inhibitor therapy to reduce bleeding in Hemophilic patients. Inventions in product developments for the same therapy are another emerging field for the stakeholders to enter into the treatment domain of Hemophilia and establish a continuously growing business.

Also, improvements in research and development for the treatment and diagnosis of Hemophilia have expanded the chances for numerous market participants. New medicine production, novel therapy, and diagnostic kit manufacture have raised market size and hence the income of existing important players. Innovative technology, regulatory approval, government initiatives for patient health, and the introduction of laws and regulations in the research sector have expanded the market's influence.

Clinical Trial Assessment-

The government's increased emphasis on comparing the effectiveness of studies highlights the essential importance of clinical trials in the practice of evidence-based medicine and health care reform. One of the primary aims of healthcare reform is realized by market participants thoroughly assessing medical therapy using clinical data.

The table below includes the study names of the ongoing clinical trials as well as the stages at which they are taking place.

Phase I

Phase II

Phase III

Phase IV

A Phase 1b, Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Subcutaneous MG1113 in Patients with Severe Hemophilia

A Pharmacokinetic and Clotting Activity Study of FVIII-PEGLip Administered Intravenously to Severe Haemophilia A Patients With and Without Inhibitors to FVIII

aPCC and Emicizumab Safety Study in Congenital Hemophilia A Patients With Inhibitors (SAFE Study: Safety of aPCC Following Emicizumab Prophylaxis)

An 18-month Low-interventional Prospective, Multicentre Study to Assess Joint Outcomes in Patients With Haemophilia A or B on Prophylaxis With Efmoroctocog Alfa or Eftrenonacog Alfa

A Study to Demonstrate Bioequivalence of a Single Subcutaneous Administration of NNC0365-3769 (Mim8) With the DV3407-C1 Pen Injector Versus a Syringe and Enhanced Cartridge in Healthy Male Participants

A Multi-center, Open-label, Multiple-dose Design, Phase 2 Trial to Evaluate the Safety and Efficacy of STSP-0601 for Injection in Patients With Hemophilia Without Inhibitor

An Open-Label Study in Adolescent and Adult Severe (Coagulation Factor Activity <1%) Hemophilia A Participants With or Without Inhibitors or Moderately Severe to Severe Hemophilia B Participants (Coagulation Factor Activity ≤2%) With or Without Inhibitors Comparing Standard Treatment to PF-06741086 Prophylaxis

A Multicenter, Single-arm Exploratory Study of CD38 (Daratumumab) Monoclonal Antibody (Daratumumab) Combined Corticosteroid in the Treatment of Acquired Hemophilia A (AHA)

Assessment of Safety and Preliminary Efficacy of ASC618 in Subjects With Severe and Moderately Severe Hemophilia A

Assessment of Safety and Preliminary Efficacy of ASC618 in Subjects With Severe and Moderately Severe Hemophilia A

Open-label, Long-term Safety and Efficacy Study of Mim8 in Participants with Haemophilia With or Without Inhibitors

Health-Related Quality of Life of Youth and Young Adults with Haemophilia Treated with Efmoroctocog Alfa in Russia

Gene Therapy for Hemophilia A With a High Expression Factor VIII Transgene in Autologous Hematopoietic Stem Cells

Emicizumab in Patients With Acquired Hemophilia A: Multicenter, Single-arm, Open-label Clinical Trial

A Phase III Clinical Study of the Efficacy and Safety of Recombinant Human Activated Coagulation Factor VII for Injection in Patients With Hemophilia With Inhibitors

Safety of SEVENFACT® for the Treatment of Bleeding Events in Patients With Hemophilia A or B With Inhibitors

Phase I Study Evaluating Safety and Feasibility of Hematopoietic Stem Cell Gene Transfer That Targets Factor VIII Delivery From Platelets for Patients With Hemophilia A

An Open, Multicenter, Dose Escalation Study To Evaluate The Safety, Tolerability, Pharmacokinetics, And Pharmacodynamics Of Multiple Subcutaneous (SC) Doses of KN057 in Subjects With Hemophilia A or B, With or Without Inhibitors

A Multinational, Open-label, Randomised, Controlled Study to Investigate Efficacy and Safety of NNC0365-3769 (Mim8) in Adults and Adolescents With Haemophilia A With or Without Inhibitors

A Multicenter, Open, Extension Trial to Evaluate Safety and Efficacy of Recombinant Human Coagulation Factor VIII (SCT800) During Long Term Treatment in Previously Treated Patients With Severe Haemophilia A .



There are different market scenarios concerning countries/regions for hemophilia-specific diagnostics and medications. Because of the impact of Hemophilia and difficulties related to the economic viability of treating Hemophilia, governments have shown different investments and centers establishment in the Hemophilia diagnosis and treatment field.

DLI aids in identifying the target market, driving marketing plans, and keeping market participants informed of emerging trends. DiseaseLandscape Insights helps manufacturers in developing and implementing effective medicines to halt and control Hemophilia outbreaks by providing extensive market research.

DLI provides comprehensive healthcare market analysis that provides the strategic expertise required to start and maintain a healthcare business and assists industry stakeholders in making informed and successful business decisions.

Vishal SawantBusiness Development

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