The Rare Inheritance: World Hemophilia Day

World Hemophilia Day is observed on 17 April to raise the awareness of hemophilia and other bleeding disorders.

World Hemophilia Day

हीमोफिलिया एक अनुवांशिक विकार है जिसमे पीड़ित व्यक्ति को किसी प्रकार की चोट लग जाने पर अधिक देर तक रक्तस्त्राव होता है . हीमोफिलिया से ग्रस्त व्यक्ति के शरीर में क्लॉटिंग फैक्टर्स ( जो रक्त-वाहिकाओं पर किसी प्रकार की चोट लगने पर रक्तस्त्राव को बंद कर देते है ) की कमी होती है, अतः इन व्यक्तियों में अधिक देर तक रक्त का बहना जारी रहता है .

Haemophilia is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.

Hemophilia is a bleeding problem and the people with hemophilia can bleed for a longer time as their blood does not have enough clotting factor, a protein in blood that controls bleeding.

Hemophilia is usually inherited, the hemophilia gene is passed down from parent to a child. The genes for hemophilia A and B are on the X chromosome. For this reason, hemophilia is called an X-linked (or sex-linked) disorder. Girls who inherit the gene rarely get the condition, but as carriers of the gene they can pass it to their children.

The theme for this year is Access for All: Partnership, Policy, Progress! 

हीमोफिलिया A और B से पीड़ित व्यक्ति के अल्टेर्ड जीन्स x क्रोमोसोम्स पर होते है, जिसके कारण हे इसे X – लिंक्ड डिसऑर्डर भी कहा जाता है.

lack of clotting factors in blood

Sometimes hemophilia can occur when there is no family history of it. This is called sporadichemophilia. About 30% of people with hemophilia did not get it through their parent’s genes. It was caused by a change in the person’s own genes.

Signs and Symptoms of External Bleeding:

• Bleeding in the mouth from a cut or bite or from cutting or losing a  tooth
• Nosebleeds for no obvious reason
• Heavy bleeding from a minor cut
• Bleeding from a cut that resumes after stopping for a short time

signs of hemophilia

Signs and Symptoms of Internal Bleeding:

•  Blood in the urine
•  Blood in the stool
•  Large bruises
•  Bleeding in the knees, elbows or around other joints
•  Swollen and Painful Joints

Medical Management:

For both types of Hemophilia, getting quick treatment for bleeding is of utmost important. Early treatment can limit damage to the organs of the body.

 

1. Treatment With Replacement Therapy
2. Desmopressin
3. Antifibrinolytic medicines
4. Pain medicines along with  steroids
5. Physical therapy may be used to reduce pain and swelling in an affected joint
6. Gene Therapy

Don’t Forget to look out for above mentioned signs and symptoms..

Remember that the Earlier the Diagnosis, the Better will be Prognosis…

So, Keep Your Spirits High and Never Give Up…

 

Dr. P Pathak

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