Care For Rare Disease Circle

Early diagnosis of Sickle Cell Disease and treatment can reduce the risk of complication. Health care providers will recommend necessary tests based on medical history and physical examination.  Here are the various tests and their role in screening and diagnosis of Sickle Cell Disease. Hemoglobin Electrophoresis Blood test is done to check if you have sickle hemoglobin and if you are a carrier for sickle cell disease.  Genetic testing is used to identify the specific type of sickle…

There are several types of sickle cell diseases, each characterized by different genetic abnormalities. The main types include: Sickle Cell Anemia (SS): Inherited when a child receives two copies of the sickle cell gene from both parents. Common in African and Indian populations. Sickle Hemoglobin-C Disease (SC): Combines hemoglobin C and S. Similar symptoms to sickle cell anemia but less anemia. Common in West African, Mediterranean, and Middle Eastern populations. Sickle Beta-Plus…

Each person with Sickle Cell Disease may experience symptoms differently. List of symptoms include: Fatigue and weakness – Sickle cells have short life and less oxygen carrying capacity compare to normal red blood cells. This can lead to severe anemia, shortness of breath and dizziness.  Pain crisis –When sickle cells get stuck in blood vessels due to their sticky property, they block the blood flow. This can result in pain crisis. Generally, pain occurs in chest, arms and legs.…

Causes of Sickle Cell Disease  Sickle cell disease is caused by defect in gene and it is passed down from parents to children. The mutations in the beta globin genes affect the structure of hemoglobin molecule (also called as Hemoglobin S.), causing it to form abnormal "sickle" shapes.                           Figure 2 – How sickle cell disease is inherited? A child will be born with sickle cell disease only if two genes…

 Sickle cell disease is an inherited disorder that leads to abnormal hemoglobin. All red blood cells contain hemoglobin, which carries oxygen throughout our body. Normal and healthy red blood cells are round in shape and move through small blood vessels to carry oxygen to all parts of the body. In sickle cell disease, abnormal hemoglobin causes the red blood cells to become sticky and hard and look like a C- shape called “sickle”. Due to this shape and sticky nature, it gets stuck in the…

31-year-old Shourabh Vittalmurthy was diagnosed with fibromatosis in 2016, and subsequently spindle cell sarcoma in 2022 and 2023. He shares his journey as a cancer survivor to show how adopting a positive mindset and staying resilient has been his guiding light through each challenging chapter. When was the cancer first diagnosed? The first occurrence of cancer was in 2016. I was pursuing my Masters in Manipal, India. A lump the size of a football, started growing out of my scapular region. I…

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…