Care For Rare Disease Circle

Prevention of Sickle Cell Disease There is no known way to prevent this genetic disease. Avoid consanguineous marriages and encourage blood testing before marriage Screening tests such as Prenatal diagnosis or new born screening can be done to check if baby has sickle cell disease for prompt intervention and treatment. We must keep check on symptoms for sickle cell disease and early diagnosis of it.     References Image 1 : https://www.aboutkidshealth.ca/Article?contentid=745&…

Management of Sickle Cell Disease and its Complications The key to manage sickle cell disease and its complication is rapid hydration and pain control. Any and all major organs are affected by sickle cell disease. Complications such as increased infections, leg ulcers, bone damage, early gallstones, kidney damage, eye damage or multi organ failure can happen.  Taking the following steps to stay healthy might help avoid complications of sickle cell disease: Staying hydrated Regular…

Treatment of sickle cell disease aims to manage symptoms and prevent organ damage. Besides bone marrow transplants that can be curative for some people, there are  also emerging gene therapies for sickle cell disease.   Pain medications for pain crisis Drinking plenty of water daily (8 to 10 glasses) to manage pain crisis Blood transfusion  Vaccinations and antibiotics to prevent infections Folic acid to prevent severe anemia Hydroxyurea helps to reduce the frequency of…

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…