Haemophilia is a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed profusely from even a slight injury. On the occasion of World Haemophilia Day, Medicircle is conducting an exclusive series on haemophilia featuring eminent hematologists to spread awareness about this rare medical condition.

Dr. Abhijeet Ganapule is a Consulting Haematologist associated with Niche Haematology Care, Kolhapur. He deals with all blood-related disorders like Anemia, Leucopenia, Thrombocytopenia, Leukemia, Lymphoma, and Multiple myeloma.

Common and uncommon causes of haemophilia

Dr. Abhijeet explains, “Haemophilia is a hereditary disorder. It is called X-linked disorder which means that females are always carriers whereas males are affected. So, from the mother, it will go to the son whereas the daughters would be the carriers transmitting to the next generation. This genetic disorder is transmitted by X chromosomes and that is why it is known as X-linked disorder. There are certain rare cases like lyonization (one of two X chromosomes in a female randomly becomes inactivated) or if there is a lot of inbreeding in the sense of consanguineous marriage (marriage between people who are second cousins or closer), then there is a chance that females might also get affected,” says he.

Mucosal and subcutaneous bleeding in haemophilia

Dr. Abhijeet points out, “There can be bleeding from any site whether it is internal or external. The individual because of an inherited defect in factor production is unable to stop that bleeding. So, these patients experience either mucosal bleed, that is gum bleeding or at times just subcutaneous bleeding because of factor deficiency and the most common presentation is joint or muscle bleeding."

He mentions, "We check PT (Prothrombin Time ) and APTT (Activated Partial Thromboplastin Time), and platelets which constitute primary screening. So, in haemophilia patients, APTT is prolonged and this APTT gets corrected.” 

Mixing or correction study in haemophilia

Dr. Abhijeet emphasizes, “What is this mixing study or correction study? So, as I said in haemophilic patients, there is prolongation of APTT. In the mixing study we take 50% of the patient’s plasma and mix it with normal plasma. So, normal plasma will be having an adequate or normal amount of factor, and patients plasma will be having a deficiency of the factor. So, normal plasma will make that patient's plasma which is deficient in factor  normal and once an APTT on this mixed sample that is half patient and half control is done, it is found that APTT is normal. This indicates that the patient is having factor deficiency and the diagnostic test is due to do factor estimation. Factor estimation is done in specialized labs. In our lab we do that too. We do factor estimation and based on this factor estimation, we can categorize the patient in mild, moderate, or severe categories,” says Dr. Abhijeet.

The severity of haemophilia depends on the percentage of factor deficiency

Dr. Abhijeet points out, “Haemophilia is of three types. One is Haemophilia A, which is the common type of haemophilia and there is haemophilia B. Haemophilia A means factor VIII deficiency, Haemophilia B means factor IX deficiency and there is something called Haemophilia C that is factor XI deficiency. In all the three categories of haemophilia if the deficiency level is between 5 to 50, then it's mild haemophilia, if it's between 2 – 5, then it is moderate haemophilia. If it is less than 1%, it is severe haemophilia.”

(Edited by Amrita Priya)