Haemophilia Specialists in Maharashtra
Haemophilia is a rare inherited bleeding disorder in which the blood does not clot properly due to a deficiency in specific clotting factor proteins, most commo…
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What is Haemophilia?
Haemophilia is a rare inherited bleeding disorder in which the blood does not clot properly due to a deficiency in specific clotting factor proteins, most commonly factor VIII or IX. This deficiency causes prolonged or excessive bleeding after injuries, surgery, or sometimes spontaneously into joints and muscles. It is an X-linked genetic condition, meaning it predominantly affects males while females are typically carriers. Severity varies based on how much clotting factor activity remains in the blood.
Severe
Rare — affects about 1 in 5,000 male births for haemophilia A
No
Causes of Haemophilia
Caused by inherited mutations in the genes coding for clotting factor VIII (haemophilia A) or factor IX (haemophilia B), located on the X chromosome. Because males have only one X chromosome, a single defective gene copy is enough to cause the disease, while females typically need two copies to be affected and more often serve as asymptomatic carriers.
Symptoms of Haemophilia
Prolonged bleeding after cuts or surgery, easy and excessive bruising, spontaneous bleeding into joints causing pain and swelling, blood in urine or stool, frequent nosebleeds, unexplained large bruises, tightness or swelling in joints, prolonged bleeding after dental procedures
Treatment & Types of Haemophilia in Maharashtra
Treatment centers on replacement therapy with concentrated clotting factor infused intravenously to prevent or control bleeding episodes, often given prophylactically in severe cases. Newer non-factor therapies and gene therapy are emerging options, alongside careful avoidance of medications that increase bleeding risk like aspirin and NSAIDs.
Haemophilia has two main types based on the deficient clotting factor: haemophilia A, caused by factor VIII deficiency and the more common form, and haemophilia B, caused by factor IX deficiency. Severity is classified as mild, moderate, or severe based on the percentage of normal clotting factor activity remaining in the blood, which directly predicts how often spontaneous bleeding occurs and how aggressively treatment is needed.
Hematology Specialists in Maharashtra (0)
No specialists listed yet in Maharashtra — browse all doctors instead.
Frequently Asked Questions
Is haemophilia only inherited by boys?
Because the affected genes are on the X chromosome, males need only one defective copy to be affected while females typically need two, so haemophilia predominantly affects males, with females usually being carriers, though carriers can occasionally have mild symptoms themselves.
Can haemophilia be cured?
There is no widely available cure yet, though gene therapy is an emerging option showing promise for some patients, and current replacement therapy allows most people with haemophilia to live full, active lives.
What should someone with haemophilia avoid?
Medications that increase bleeding risk, like aspirin and NSAIDs, and contact sports with high injury risk should generally be avoided, while low-impact exercise is actually encouraged to support joint health.
How is haemophilia treated day to day?
Regular prophylactic infusions of clotting factor concentrate are often used in severe haemophilia to prevent spontaneous bleeding before it starts, rather than only treating bleeds after they occur.
Can carriers of haemophilia have symptoms?
Yes, some female carriers have factor levels low enough to cause mild bleeding symptoms themselves, so carrier testing and factor level checks are recommended for women with a family history.