We encounter with so many diseases throughout our lives, but still some diseases remain unknown to us. The reason behind this is that some diseases are so rare that it occurs to one in some hundreds or thousands of people. As a result, there ailments and treatments as also limited and cost of treatment also remains high. Rare diseases occur to people because of some genetic defect, hereditary condition or prevalence of infection in rare cases. In India there are number of rare diseases but among them some affect more people than others. Today we will know about some rare diseases that usually occur to people in our country.
Rare Diseases and conditions common in India
We spoke to Dr. Arun Mehta, Consultant Haematologist in Ivory Hospital, Greater Noida to know about different types of rare diseases. He told about 5 types of rare diseases which commonly occur in Indian patients and symptoms of those diseases.
1. Haemophilia Disease
One of the rare disorders that affects you health is haemophilia. This is disorder in which blood clotting ability is affected and you have regular bleeding even if you get slight cut at some body part. Haemophilia occurs mostly to people having this is hereditary condition. There is usually someone in the family that has inherited prolonged bleeding. You may have bruises, pain and stiffness around your joints, elbows and internal bleeding because of this condition. It can be very severe if you go through an accident or injury of any kind.
2. Thalassemia
This is another blood disorder that is inherited from the family. In condition of thalassemia, the production of haemoglobin in the cells that carries oxygen depletes. It affects functioning of your body and leads to destruction of healthy red blood cells present in the body. Thalassemia patients have hard time in performing regular activities because of loss of blood that causes fatigue. People usually get pale yellowish skin in thalassemia and it can get more severe if the patient is not given medical attention. Symptoms of thalassemia can lead severe problems such as-
- Bone deformities
- Fatigue
- Muscle weakness
- Dark urine
- Pale skin or yellowish skin
- Hampers growth and development of body
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3. Sickle-cell disease
Sickle cell anaemia or disease is actually a group of inherited disease that also affects red blood cells in your body. This disease is more prominent towards Middle Eastern, Asian and African regions. Sickle cell disease affects people at young age and may even appear in babies that are just few months old. It is a serious condition that requires you to have immediate medical attention in first few days of the disease to avoid other complications. You may have symptoms like these with sickle cell disease-
- Jaundice
- Swelling in hands
- Pain in hands and feet
- Frequent infections in body
- Bedwetting in kids
- Fussiness in babies
- Experiencing fatigue and weakness
- Delayed growth
- Having lung conditions
People having this disease need a specialist in order to prevent them from getting health adversities. Only a haematologist can take care of such patients and you need to be under regular care and guidance of expert to control and treat this blood disorder.
4. Pompe Disease
Pompe disease is an inherited disease that happens when the body is unable to produce sufficient amount of proteins that can be used to break down complex sugar. This sugar or glycogen is used by the body to produce energy, due to lack of which you may start feeling tired very easily. Glycogen storage disease type 2 also causes breathing problems and weakness in muscles. Pompe disease occurs rarely in people but when it does it disrupts several systems such as liver, heart and muscles of the body. You may experience these symptoms if you have pompe disease-
- Poor muscle tone
- Weakness in muscles
- Trouble breathing
- Enlarged liver
- Not gaining sufficient weight
- Having problems while eating
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5. Cystic Fibrosis
Another very harmful condition that affects you body is cystic fibrosis. It is also an inherited disease that can damage your lungs, digestive system and other organs in the body. Cystic fibrosis usually occurs to people in their childhood and can vary from child to child over the years. Unfortunately there is no cure for this condition but there are therapies and methods to ease symptoms of cystic fibrosis. Symptoms of cystic fibrosis include the following-
- Wheezing
- Persistent cough
- Shortness of breath
- Chest infection
- Inflammation in nasal passage
- Stuffy nose
- Intolerance for exercise and physical workout
- Poor bowel movements
- Constipation
- Jaundice
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