Disease of the Month: Hemophilia

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Disease of the Month: Hemophilia


  • To create a wholesome environment for the current and the future generation, it’s totally up to life science companies and decision-makers to embrace and integrate every prospect of the underlying disease conditions and address those issues to find cures
  • To continue the series for disease of the month, PharmaShots brings this month a summary of the disease Hemophilia, a rare, genetic disorder that slows down the blood clotting process
  • 17th April is observed as World Hemophilia Day to raise awareness for hemophilia and other bleeding disorders.


Hemophilia is a rare, genetic disorder that slows down the blood clotting process, results in an increased risk of bleeding after an injury or surgery. It is more prominent in males as compared to females

It occurs when a clotting factor is missing or levels of the clotting factor are low

The three types of hemophilia are:

  • Hemophilia A (80%),
  • Hemophilia B (20%) and
  • Hemophilia C (<1% of cases)

Hemophilia A (Classic Hemophilia/Factor VIII Deficiency):

It caused by missing/ defective/ low level/ low expression of factor VIII (F8 gene mutation), Although it is passed down from parents to children. It affects ~10 in 100,000 people. Hemophilia A is four times as common as hemophilia B. 

Hemophilia B (Christmas Disease/Factor IX deficiency):

It caused by missing/ defective/ low level / low expression of factor IX gene (F9 gene mutation). It affects ~3 in 100,000 people in the US

Hemophilia C (Rosenthal Syndrome):

It caused by missing/defective/low level/ low expression of factor XI (F11 gene mutation). Most commonly found in the Ashkenazi Jewish population. This hemophilia type is very rare, affecting 1 in 100,000 people.


The most commonly type is Hemophilia inheritance that passed from mother to son through faulty gene located on mother’s X chromosome. Also, it could be congenital known as Congenital hemophilia.  In some people hemophilia develop without any family history of the disorder known as acquired hemophilia.


  • Prolonged oozing after injuries, tooth extractions or surgery
  • Hematoma
  • Bruising
  • Bleeding into the joints, mouth and gums
  • Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
  • Bleeding after circumcision
  • Bleeding after having shots, such as vaccinations.
  • Bleeding in the head of an infant after a difficult delivery.
  • Blood in the urine or stool
  • Nosebleeds without a known cause


  • Prothrombin time (PT) test, a clotting factor test is performed to check the blood clotting factor in the body
  • Activated partial thromboplastin time test, a blood test to time blood clot formation.
  • Specific clotting factor test, a blood test that show specific clotting factor levels (such as factor 8 and factor 9)
  • Genetic testing for people with a family history of hemophilia, might be used to identify carriers to make informed decisions about becoming pregnant


According to the US CDC, hemophilia A occurs in ~1 in 5,617 and hemophilia B is ~1 in 25,000-30,000 male births. In Aug 2022, there were ~33,000 people with hemophilia in the US.

Market Size:4 The global hemophilia market size accounted for $12.2B in 2021 and is projected to increase at $22.2B by 2030 at a CAGR of 6.9%


  • The main treatment for severe hemophilia is boosting/ replacing missing clotting factor but some people who went through replacement therapies develop antibodies, called inhibitors, which attack the clotting factors that control bleeding. To overcome this, a technique called immune tolerance induction (ITI) is used in which clotting factors given on a daily basis to bring down inhibitor levels
  • In some forms of mild hemophilia Desmopressin hormone can inject slowly into a vein or used as a nasal spray to stimulate the body to release more clotting factor
  • Clot-preserving medications/anti-fibrinolytics medications help prevent clots from breaking down
  • Avoid blood-thinning medications like heparin, warfarin, clopidogrel etc.
  • Fibrin sealants can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful for dental work.

Key Players in the Market:

Hemgenix (etranacogene dezaparvovec)6 is a one-time gene therapy for the treatment of adults for hemophilia B, who is currently use Factor IX prophylaxis therapy, or have current or historical life-threatening bleeding, repeated, serious spontaneous bleeding episode. It was developed by UniQure and marketed by CSL Behring through a 2021 licensing agreement

Other key leaders with approved molecules in the market are: Novo Nordisk, Sanofi, Roche, Bayer etc.

Clinical Trial Analysis:7

As of Mar 23, 2023, total 69 clinical trials are ongoing worldwide for hemophilia. Some of the key molecules involved in the trials are: Concizumab and Mim8 (Novo Nordisk), Emicizumab (Hoffmann-La Roche) etc.

Various gene therapy researches are ongoing that may offer a cure for hemophilia in the future. Also, research is ongoing on Stem cells from bone marrow to provide therapeutic aid for hemophilia A patients

Based on G10 geography distribution, the interventional clinical trials are classified in the below mentioned graph in two groups based on its status i.e., active (recruiting, active, not recruiting, not yet recruiting and enrolling by invitation) and inactive (withdrawn, suspended terminated and trials with unknow status). The interpretation showed that highest no. of trials being conducted in the USA and the least number of trials are reported in India and Japan (as represented in the graph)



  1. NIH
  2. Clevelandclinic
  3. CDC
  5. Mayoclinic
  7. ClinicalTrials.gov

Related Post: Disease of the Month: IgA Nephropathy

Content Writer

Akanksha was a content writer at PharmaShots. She is interested in covering recent innovations from pharma & medtech industry. She covers news related to Product approvals, clinical trial results, and updates. She is passionate, meticulous, diligent, and inquisitive. She can be contacted at connect@pharmashots.com.

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