Hemophilia: The Most Common Bleeding Disorder

Hemophilia The Most Common Bleeding Disorder

Hemophilia is a bleeding disorder that is often seen in males. It is characterized by the body’s inability to clot blood as quickly as possible to prevent bleeding. When blood doesn’t clot properly, it leads to excess bleeding. The severity of hemophilia is defined by the amount of factor in the blood.

What are the 13 blood clotting factors?


Clotting factors, also known as coagulation factors, are proteins in the blood that help blood clot (clump together) in other to prevent excessive bleeding. There are 13 coagulation factors responsible for bleeding control:

  • Factor I – fibrinogen
  • Factor II – prothrombin
  • Factor III – tissue thromboplastin (tissue factor)
  • Factor IV – ionized calcium ( Ca++ )
  • Factor V – labile factor or proaccelerin
  • Factor VI – unassigned
  • Factor VII – stable factor or proconvertin
  • Factor VIII – antihemophilic factor
  • Factor IX – plasma thromboplastin component, Christmas factor
  • Factor X – Stuart-Prower factor
  • Factor XI – plasma thromboplastin antecedent
  • Factor XII – Hageman factor
  • Factor XIII – fibrin-stabilizing factor 

The liver is responsible for making most of these Factors. Vitamin K is used by the liver to synthesize Factors II, VII, IX, and X. In the absence of vitamin K, excessive bleeding is inevitable.

Hemophilia is mostly an inherited disorder that occurs as a result of a deficiency of certain clotting factors. 

Types of hemophilia

There are several types of hemophilia, including:

Hemophilia A (factor VIII deficiency)

Hemophilia A is a genetic deficiency of factor VIII that is mostly inherited as an X-linked recessive trait but can also occur as a result of genetic mutation in rare cases. Hemophilia A is mainly seen in males because males usually inherit one X chromosome from their mother and one Y chromosome from their father. Women have two X chromosomes (one from their mothers and one from their fathers). The extra X-chromosome in women minimizes the effect of the deficient factor VIII, so women are mostly carriers. Since men have one X chromosome, the deficient factor VIII is very obvious.

A hemophilic man can transfer it to all his daughters, and his daughters will become carriers, but he can’t transfer it to his sons. In contrast, a carrier woman has a 50% chance of transferring it to her sons, who will become hemophilic and her daughters, who will become carriers. In a very rare event that a baby girl is born to a hemophilia father and a carrier mother, she has a 50% chance of being a carrier and a 50% chance of being a hemophilia woman.

Hemophilia A is the most prevalent type of hemophilia, and it affects 1 in every 7,500 males.

Hemophilia B (factor IX deficiency)

Hemophilia B is an X-linked recessive inherited mutation of the gene responsible for factor IX. This mutation leads to a low amount of factor IX. Hemophilia B is mostly seen in males. Hemophilia B is the second most prevalent hemophilia, and it affects 1 in every 40,000 males.

Hemophilia C (factor XI deficiency)

Hemophilia C, likewise known as Rosenthal syndrome, is a mild form of hemophilia that affects both males and females equally. It predominantly occurs in Ashkenazi Jews, and It affects 1 in 100,000 of the adult population. Hemophilia C is inherited through autosomal recessive trait, but most carriers are prone to increase excessive bleeding, unlike in hemophilia A and B, where carriers rarely express any bleeding manifestation.

Von Willebrand disease (also called angiohemophilia)

Von Willebrand disease is a hereditary disorder that is caused by a deficiency of the von Willebrand factor. It is an autosomal dominant pattern of inheritance, meaning there are no carriers, just a dominant pattern of the disease. There is a 50% chance of a mother or father with Von Willebrand disease passing it on to her children. 

There are 3 types of Von Willebrand disease:

  • Hereditary
  • Acquired
  • Pseudo or platelet type

Von Willebrand also affects different breeds of dogs as much as it affects humans.

Signs And Symptoms Of Hemophilia

  • Easy bruising
  • Large bruises
  • Hematomas
  • Excessive bleeding from a minor cut
  • Prolonged bleeding
  • Hematuria (blood in urine)
  • Epistaxis (nosebleeds)
  • Hemarthrosis (bleeding into the joints)
  • Gingival bleeding during exfoliation of primary dentition
  • Ecchymosis
  • Spontaneous bleeding from oral tissues (tongue, buccal mucosa, and soft palate)
  • Postpartum bleeding
  • Tonsil bleeding
  • Bleeding into the brain
  • Headaches
  • Reduced level of consciousness
  • Nausea and vomiting of blood
  • Bleeding into muscles and subcutaneous tissues
  • Numbness/pain in the extremities
  • Joint disfigurement
  • Heavy menstrual flow

How is Hemophilia diagnosed?

Hemophilia is confirmed in the presence of:

  • Family history of hemophilia
  • During prenatal testing (chorionic villus sampling and amniocentesis)
  • When coagulation tests reveal: prolonged partial thromboplastin time (PTT), normal bleeding time, normal prothrombin time (PT), normal thrombin time (TT), Low levels of factor VIII, IX, XI, and Von Willebrand factor
  • Other tests involve genetic testing and X-rays.

What is the treatment of choice for hemophilia?

  • Replacement of reduced clotting factors: Plasma concentrate Factor VIII, IX, XI, and Von Willebrand factor
  • Blood transfusions
  • Desmopressin
  • Use of Tranexamic acid for any surgical procedure.
  • Epsilon aminocaproic acid
  • Light physical therapy
  • Steroids

NOTE:

  • NSAIDs worsen bleeding, therefore, should be avoided.
  • Heparin and Warfarin are contraindicated in patients with hemophilia.
  • Avoid popular rough sports that could lead to injuries.