What is Treatment for Diamond-Blackfan Anaemia and Its Cost?

Diamond-Blackfan Anaemia Treatment in India – Costs & Therapy Options

Diamond-Blackfan Anaemia is an inherited condition and occurs in an autosomal dominant pattern. It means that only one copy of the altered gene is sufficient to cause the disorder. The condition is dangerous and can lead to severe anaemia and other serious complications. Let us explore the treatment options for it.

How is Diamond-Blackfan Anaemia Treated?

• Administering Corticosteroids - Corticosteroids stimulate early erythroid progenitors and may improve red blood cell production in responsive patients.
• Undergoing Stem Cell Transplant - Stem cell transplant is currently the only clinically establishedcurative treatment for Diamond,Blackfan Anaemia, although gene,therapy–based approaches are emerging as potential future curative options.
• Conducting Blood Transfusion - It uses donated red blood cells to boost the blood level in the body.

What is the Cost of Diamond-Blackfan Anaemia?

What Causes Diamond-Blackfan Anaemia?

Diamond-Blackfan Anaemia primarily occurs when there is a change in the ribosomal protein genes. The ribosomal protein genes make the red blood cells. Any sudden changes cause a decrease in production of red blood cells, resulting in anaemia.

How Do Doctors Diagnose Diamond-Blackfan Anaemia?

Healthcare providers use a combination of several tests to confirm the diagnosis of Diamond-Blackfan Anaemia:

• Reticulocyte Count - It checks for any immature red blood cells. A low count suggests problems in the bone marrow.
• Biopsy - In this procedure, samples of bone marrow are collected to determine the low production of red blood cells.
• Complete Blood Count (RBC)- It measures the level of red blood cells, white blood cells, platelet count and haemoglobin of an individual.

What is the Future Outlook for Diamond-Blackfan Anaemia?

Even after undergoing treatment measures for Diamond-Blackfan Anaemia, patients require lifelong monitoring and care. Long, term survival in Diamond, Blackfan Anaemia varies, and outcomes depend on factors such as treatment response and complications. Published registries report improved survival with modern supportive care, but exact survival percentages vary across studies.

What are the Risks and Complications of Diamond-Blackfan Anaemia?

The risk of facing serious complications increases more around the age of 25. Here are a few possible complications that can arise out of this condition:

• Birth irregularities like issues with the heart, kidneys and limbs
• Slower growth of affected individuals
• Overload of iron from repeated blood transfusions
• Lower count of platelets
• Lower levels of blood cells

How Rare is Diamond-Blackfan Anaemia?

Diamond-Blackfan anaemia is a very rare bone marrow disorder which affects 7 out of every 10,00,000 live births. It has links with mutations in components present in ribosomes.

Early diagnosis and treatment of Diamond-Blackfan Anaemia can help prevent complications such as tumour development or organ failure. Prompt medical intervention is crucial for ensuring the long-term health and well-being of affected individuals.