Congenital Anaemias

Congenital Dyserythropoietic Anaemia (CDA) is a group of rare, inherited anaemia or blood disorders which hinders the formation and development of Red Blood Cells (RBCs). People born with CDA have low RBC count, which leads to insufficient amounts of oxygen reaching the tissues & muscles throughout the body. Such shortage can result in tiredness, weakness, and pale skin and may even cause organ damage in severe cases.

There are five prominent groups which have been classified under Congenital Dyserythropoietic Anaemias, which can be diagnosed at any age. Symptoms vary from person to person depending upon the type of Congenital Dyserythropoietic Anaemia. Although it may be present from birth, it may go unnoticed for several years. Apollo Hospitals, Karnataka, specialises in the diagnosis and treatment of a wide range of health conditions with special acumen for the diagnosis of rare genetic diseases.

What are the types of Congenital Dyserythropoietic Anaemia?

Congenital Dyserythropoietic Anaemia, or CDA, is generally classified into five types – CDA 1, CDA 2, CDA 3, CDA 4 & CDA 5. Out of these, CDA 2 has been reported to be the most common type, whereas CDA 3 & 5 are the rarest. Although CDA 1 has been described, the incidence is still unknown.

What causes Congenital Dyserythropoietic Anaemia?

Congenital Dyserythropoietic Anaemia is caused by a mutation in some particular genes. Some patients having symptoms of CDA have not shown mutation in this gene leading scientists to believe that there are more genetic mutations associated with CDA occurrence.

The genetic changes resulting in CDA cause disruption in the normal formation of RBCs in a process known as Erythropoiesis. This causes abnormally formed RBCs along with other physical and physiological issues & complications, including Hepatosplenomegaly and an abnormal buildup and accumulation of iron.

What are the symptoms of Congenital Dyserythropoietic Anaemia?

In most cases, symptoms due to CDA are a result of chronic anaemia. Different CDA types may express different symptoms, and these signs may often overlap with physical symptoms of other diseases, leading to a lack of proper diagnosis.

• CDA 1: CDA patients in this group may experience moderate to severe anaemia. They may be affected by other medical conditions as a result of CDA, such as abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). All these conditions may be a result of iron accumulation due to CDA 1. Affected patients may show one or more symptoms:
  • Jaundice
  • Hepatosplenomegaly – enlarged liver & spleen
  • Skeletal deformities in the toes and fingers.
• CDA 2: This type of CDA has been classified as mild to severe and has similar symptoms and conditions as CDA 1 patients, including heart diseases, diabetes, and cirrhosis.
• CDA 3: CDA Type 3 symptoms are generally milder, and individuals with this condition generally do not suffer from Hepatosplenomegaly and iron buildup. However, in adulthood, patients may experience abnormalities in the retina of the eye leading to vision impairment.

Sometimes there may not be any symptoms; CDA may then be diagnosed while performing tests for other medical conditions. Some patients might even be suffering a different type of anaemia, such as Haemolytic anaemia. In such cases, proper genetic evaluation may help provide an accurate diagnosis.

How is Congenital Dyserythropoietic Anaemia diagnosed?

Since CDA mimics the symptoms of other related and unrelated health conditions, reliable diagnosis may be made on the basis of lab tests, including blood tests to look for abnormalities in blood cells, imaging and genetic tests for detecting mutations that might be the cause of Congenital Dyserythropoietic Anaemia. Some of these tests include:

• Blood tests
• Bone marrow analysis
• Lab tests and imaging to measure iron levels
• Molecular/genetic tests
• Tests to evaluate the underlying cause of jaundice
• Evaluation of RBC production

Proper diagnostic procedures and keen attention towards symptoms are essential to diagnose this condition. Apollo Hospitals, Karnataka, offers a genetic panel for Congenital Dyserythropoietic Anaemia diagnosis, which provides the most accurate evaluation with minimal great precision through the use of technologically advanced testing equipment. Tests are available for children and adults alike, based on the discretionary reference by our vastly experienced, board-certified doctors specialising in the interdisciplinary discipline of Haemato-Oncology.

What is the treatment for Congenital Dyserythropoietic Anaemia?

Primary treatment of Congenital Dyserythropoietic Anaemia may involve the management of symptoms through medications and blood transfusions. Specialised treatment options may be recommended for individual patients depending upon their health conditions and medical needs, which may be set by detailed discussion with the consulting doctor. In some cases, removal of the gallbladder or the spleen may need to be performed. Stem cell transplantation surgery may be recommended in severe cases of congenital dyserythropoietic anaemia. It may provide a definite cure for CDA.

Care for Congenital Dyserythropoietic Anaemia

Since CDA has the potential to cause additional health problems in patients, regular checkups after diagnosis are necessary to manage and treat symptoms or progress of other medical conditions.

Apollo Hospitals, Karnataka, is the best one-stop healthcare solution for all your medical problems. We offer comprehensive, all-inclusive healthcare facilities while ensuring prompt treatment and management of ailments.

Highly qualified doctors with several years of experience in the interdisciplinary branches of medical sciences work collaboratively at Apollo Hospitals, Karnataka, to provide the highest quality of diagnostic, consultation, and treatment services. Backed by state-of-the-art, high-end equipment for minimally invasive surgeries help provide the best treatment of various medical problems for shorter hospital stays and quicker recovery and healing.