Care For Rare Disease Circle

While Hemophilia can’t be prevented, as it is a genetic disease. However, pre-conception screening in families with history of hemophilia, early diagnosis and appropriate management can significantly improve outcomes. Here are some preventive steps to limit the frequency and severity of bleeding in Hemophilia. Avoid exercises, sports or activities that place excessive strain on the joints to protect joints, as any minor trauma can lead to bleeding in patients. Regular medical checkups and…

Hemophilia management requires a team approach. Make sure you put together the right team to support hemophilia related care.  For managing chronic pain and bleeding episodes in Hemophilia, collaboration between Hematologists, Pain specialists, Physical therapists and Mental health professionals for proper care with holistic approach. Managing joint health, preventing long term damage and addressing pain associated with bleeding episodes is crucial in this condition. Use of joint braces…

The various treatment approaches used for Hemophilia are: Replacement therapy – Missing clotting factors are replaced in the blood. Blood factor concentrates made from donated blood or Recombinant clotting factor (Lab made) are given via IV infusion. This therapy is used in severe Hemophilia cases to prevent bleeding episodes. Emicizumab (monoclonal antibody) is a drug approved for pediatric and adult patients. It helps in preventing bleeding episodes.  Desmopressin – This hormone can…

Below mentioned tests are conducted for diagnosis of Hemophilia: Complete Blood Count (CBC) – It measures the amount of hemoglobin, and the size and number of red blood cells, white blood cells and platelets. Bleeding time test – It is used to access the time for a small incision to stop bleeding. 2 to 9 minute is the normal bleeding time. Activated Partial Thromboplastin Time (aPTT) – It measures the time for blood to clot. 25 to 35 second is the normal time. Clotting factor test – It is used…

Hemophilia is classified based on the deficiency of different clotting factors: Hemophilia A (Classic Hemophilia) – It is the most common type of condition. It occurs due to deficiency of clotting factors VIII. Hemophilia B (Christmas Disease) – It occurs due to deficiency of clotting factor IX. Hemophilia C – It occurs due to deficiency of clotting factors XI. Para hemophilia – It occurs due to clotting factor V deficiency. Based on the percentage of clotting factors and severity, Hemophilia…

Symptoms of Hemophilia depend on the severity of the condition. Early detection is very important, as internal bleeding can be dangerous. Symptoms and signs of hemophilia include: Prolonged bleeding – Excessive bleeding can occur after injuries, surgeries, or dental procedures. It happens because of the absence of clotting factors required to stop bleeding. Fatigue and weakness – Chronic bleeding can lead to anemia, resulting in fatigue and weakness. Easy bruising – Large bruises can be…

Causes and Risk Factors of Hemophilia Hemophilia is often passed down from parents to children through the X chromosome. Mutations in either of the gene for the factor VIII protein or the gene for the factor IX protein leads to the low production of these clotting factors. This change in a copy of the gene that makes factor VIII or factor IX is called a Hemophilia allele. Both of these factors are found on the X chromosome.                  …

What is Hemophilia Hemophilia is a rare genetic blood disorder in which blood clotting is impaired. This occurs because specific genes producing clotting factors VIII or IX are dysfunctional. As it is an inherited condition, signs often show up in early childhood. The main sign is excessive bleeding, occurring both externally from cuts and internally into joints or organs. Other signs include nose bleeding, easy bruising, and bleeding during or after surgery. Treatment includes administering…

Mrs. Khairunnisha Usmanhaji Patel is a 58 year old woman with a rare heart disease ATTR-CM. Her husband Usman Patel speaks about the her early symptoms, the years it took to get a diagnosis, how her condition affects her quality of life and how she is coping. What condition does your wife have? My wife has a rare heart disease called ATTR-CM (Transthyretin amyloid cardiomyopathy). Can you recall the first symptoms you noticed for which you connected with the doctor? How did the diagnosis come…

Vibha Gupta, 49 originally from Delhi and now in Chicago, USA, lives with multiple chronic illnesses like Sjogren's and heart failure. She shares her journey of learning about her illness, the lifestyle changes that help her cope and why she thinks being proactive is important. Please tell us about your conditions and when you were diagnosed. I have Heart Failure, Sjogren’s, Raynaud’s and recently Idiopathic Pulmonary Arterial Hypertension (PAH). I was diagnosed in: 2010 - Raynaud’s 2013 –…