Written By: Debjani Arora | Published : April 18, 2018 6:24 PM IST
A clot can happen in the arteries or veins of legs, chest, abdomen and the brain. When blood turns into a semi-solid or a solid lump
Haemophilia is a bleeding disorder where the blood doesn't form clots. It is a genetic disorder where the blood doesn't have enough clotting factor. There is no definite cure for this disorder. However, with various therapies and medication, especially injections of clotting factor plasma, the condition can be managed and people can live a normal life. But in the recent past, a lot of promising therapies have revived some faith in treating haemophilia like gene therapy and stem cell therapy. We spoke to Dr Pradeep Mahajan, Regenerative Medicine Researcher, Mumbai to know more about the condition and the latest treatment options for this condition.
Haemophilia is an inherited genetic condition. What goes wrong in the genetic makeup that leads to this condition?
Small proteins in the blood aid in controlling bleeding. Such proteins are known as clotting factors and work through a series of chemical reactions in event of an injury to prevent loss of blood volume. There are 13 clotting factors, most being made in the liver with some requiring Vitamin K for their production. Defects in one or more of these factors may lead to bleeding disorders that can lead to life-threatening consequences. Haemophilia is one such inherited disorder associated with defects in clotting factors VIII (Haemophilia A) and IX (Haemophilia B).
Can this disorder lead to other health conditions or crisis?
Haemophilia is an X-linked disorder with females commonly being carriers while males show manifestations of the disease. The disease is considered to be severe when the missing factor levels are below 1 percent of normal values, moderate when between 1 and 5 percent and mild when levels range between 5 percent and 40 percent. Symptoms of both forms of haemophilia include prolonged bleeding after injuries as well as spontaneous bleeding (sometimes into organs and tissue spaces), which may be considered serious. Bleeding into joints can cause stiffness, pain, swelling and reduced mobility. Patients experience bruises due to repeated bleeding episodes and gradually present with symptoms of arthritis due to joint degeneration.
How is this condition treated?
Till date, there is no cure for haemophilia. Injections of the missing factor concentrate are the mainstay of conventional treatment for haemophilia. Prophylactic infusions of the missing clotting factor aim to prevent bleeding and aid affected individuals lead a normal life. Other techniques include transfusion of cryoprecipitate or frozen plasma (blood transfusion). These techniques, however, harbour the risk of transmission of infections and transfusion reactions.
What are the recent developments observed in providing treatment in haemophilia?
Advances in therapies for monogenic conditions (those caused by a single causative agent), like haemophilia, include gene therapy where research is ongoing to replace the missing clotting factor. The technique, although theoretically promising, is technically demanding as it requires generation and replacement of the specific structural and functional protein. More recently, Regenerative Medicine researchers have propagated cell-based therapy as an attractive option for transplantation of healthy cells with the required clothing factor for the treatment of haemophilia.
How effective is stem cell therapy in treating haemophilia?
Hematopoietic stem cells, autologous dermal fibroblasts etc. have been tried in the treatment of Hemophilia with varying results. Recent studies are exploring the role of Mesenchymal Stem Cells (MSC) in the treatment of the condition. MSCs are multipotent and show immunomodulatory and tissue trophic properties. In the context of haemophilia, as the liver is the source of the clotting factors, the regenerative property of MSCs play a vital role in enhancing function. These cells have been shown to secrete Factor VIII and IX, thereby making them attractive candidates for the treatment of both forms of Hemophilia. MSCs are also known to home to joint spaces wherein they locally express the clotting factors. Thus, intra-articular injections of autologous MSCs may have a positive impact on hemarthrosis and arthropathy associated with bleeding episodes.
What makes MSCs so attractive is the fact that these cells can be sourced from various tissues in the body. The process being minimally invasive, does not require extensive hospitalization, therefore bringing down the financial burden. Source of cells is autologous therefore the therapy is not associated with side effects and is safe and effective.
