Thalassemia. Sickle Cell Anemia. Pompe’s Disease. Cystic Fibrosis.
Is thalassemia common in India?
In India, every year 10,000 children are being born with thalassemia which approximately accounts for 10% of the total world incidence of thalassemia-affected children and one in eight of thalassemia carriers live in India. The prevalence of thalassemia ranges between 0.6% and 15% across south India.
What are the rare diseases in India?
RARE DISEASES IN INDIA
|Sl. No||Name of the Rare Disease in India|
|1||Duchenne Muscular Dystrophy (DMD)|
|2||Farber Disease (ACID CERAMIDASE DEFICIENCY)|
How many rare diseases are there in India?
Rare Diseases as a public health issue in India
The field of rare diseases is complex, heterogeneous, continuously evolving and suffers from a deficit of medical and scientific knowledge. So far about 450 rare diseases have been recorded in India.
Why do so many people in India have rare diseases?
“The incidence of rare diseases is believed to be higher in India due to the practice of consanguineous marriages in many communities,” read a document on the issue. Consanguine is a Latin word that denotes ‘from the same bloodline’.
How long do thalassemia patients live?
“Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60,” said Dr Mamata Manglani, head of pediatrics, Sion hospital.
What is the most rare syndrome?
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.
What are the common diseases in India?
Here is a list of top ten killer death diseases in India:
- Cardiovascular Diseases. This amounts to about 24.8% deaths in the country. …
- Respiratory Diseases. …
- Tuberculosis. …
- Malignant and Other Tumours. …
- Defined Conditions. …
- Digestive Diseases. …
- Diarrheal Diseases. …
- Unintentional Injuries.
What are examples of rare diseases?
Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and inherited malformations.
Some examples of rare diseases are:
- cystic fibrosis.
- muscular dystrophy.
- spina bifida.
What is a very rare disease?
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments.
How many people have aarskog?
An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
How many geneticists are there in India?
These services have progressively expanded over the last 30 years and as many as 40 trained Medical and Clinical geneticists practice all over the country at present.
What is Proteus syndrome?
Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas).