Diamond Blackfan Anemia

Diamond Blackfan Anemia (DBA) is a rare congenital – inborn – disorder that occurs mostly in young children. It is a rare blood condition in which the bone marrow – which is responsible for producing blood cells – fails to produce enough red blood cells, causing a shortage of red blood cells in the body which is termed “anemia”. The function of the red blood cells in the body is to carry oxygen to the blood tissues. When the number of red blood cells in the blood is below normal, it leads to a number of symptoms, most notably being tiredness (lethargy).

The symptoms of DBA include the symptoms of all other types of anemia such as paleness of the skin, deficiency of red blood cells at birth, weakness and fatigue. The symptoms and physical findings vary with each case. The following are also symptoms of Diamond Blackfan Anemia:

• Protruding shoulder blades or scapulae
• Congenital heart failure (in rare cases due to severe anemia)
• Abnormal shortening of the neck (webbing) due to fusion of certain bones in the spine
• Short stature
• Heart murmur (unusual sounds heard during the heart beats)
• Abnormal or absent thumbs
• Snub nose
• Droopy eyelids which is also known as ptosis
• Low set ears
• Microcephaly, or an unusually small sized head
• Strabismus (a condition where both eyes are looking in the same direction)
• Widely separated eyes (hypertelorism)
• Protruding upper lips

It has been observed that people with DBA have a very high chance of developing MDS (Muelodysplastic Syndrome) – a disorder where immature blood cells fail to properly develop. They also have an increased risk of developing certain cancers – up to five of them – including AML (Acute Myeloid Leukemia) and osteosarcoma.

It is estimated that about half of all DBA cases are as a result of genetic causes, probably being gene mutations or similar causes, while the causes of some cases are unknown. It is also known if a child’s probability of having DBA increases when one of his or her parents is a carrier.  

However, there are at least three genes that are known to be associated with the disorder, with only one fully identified. The identified gene is said to be located in chromosome 19, and is known as RPS19 (Ribosomal Protein S19) – which accounts for about 25% of all DBA cases. The disease that is caused by the mutation of these changes is inherited by the daughter chromosomes in an autosomal dominant pattern.

Other genes associated with this condition include RPL5 (about 7% of all cases) and RPL11 (approximately 5% of all DBA cases).

Parents that are closely related are known to have a higher chance than parents who are not related to carry the same abnormal gene, thus increasing the chances of their children to inherit the recessive gene disorder.

DBA can be treated with two major methods: through corticosteroid therapy and red blood transfusion.

Using corticosteroid therapy

This involves the treatment of DBA by administering adrenal corticosteroid drugs beginning at an early stage as soon as the disease is diagnosed. An example of a corticosteroid drug is oral prednisone, which has been proven to be really effective in the treatment of children with Diamond Blackfan Anemia.

Treatment using corticosteroid therapy however comes with some side effects that include weight gain, high blood pressure, water and salt retention, weakness of the muscles, headaches, wounds that won’t heat and osteoporosis.

Treatment through red blood transfusions

This method involves transfusing blood that is rich in red blood cells to the affected child to increase the number of red blood cells in the body. This method can also be used in conjunction with corticosteroid therapy for better results.

Multiple blood transfusions can be done in cases in which the anemia is severe and the application of steroids is ineffective. However, this comes with some complications such as fever and rash, excessive build-up of iron in the body that is harmful to the heart and liver, which may lead to diabetes or slow the normal growth process of the child. The excess iron can be removed through a process known as “chelation”.

The chelation therapy involves the use of recommended drugs to remove excess iron in the blood tissues.

To reduce fever and rashes caused by blood transfusions, medication should be administered prior to the transfusion process.

Other treatments for anemia are currently being researched, but the most effective still remain the use of corticosteroids and red blood transfusion. Some persons have also reported the use of herbal treatments such as the use of Nettle and Withania in the treatment of DBA, although this has not been verified by medical experts.

The only cure available for the complete treatment of Diamond Blackfan Anemia is through bone marrow (stem cell) transplantation. But, this process is not easy at all as it involves finding a matching healthy bone marrow from a willing donor.

Is remission possible during treatment?

Yes, it has been observed that in approximately 17% of patients with DBA that were reported to DBAR (Diamond Blackfan Anemia Registry), spontaneous remissions occurred. When remissions start to occur during treatment, it is advisable to slow down or halt the transfusion therapy.

Diagnosis for Diamond Blackfan Anemia is done through a CBC (complete blood count) and bone marrow biopsy. Most patients are diagnosed within the first two years of testing. About 30% are diagnosed in the first 3 months, and approximately 90% of patients are diagnosed in the first 12 months.

The CBC is done to measure the following:

• The number of red blood cells, white blood cells and platelets in the body
• The number of hemoglobin (the part of the red blood cell that carries oxygen)
• The average size of the red blood cell
• The hematocrit, or the amount of space the red blood cell takes up in the blood

Other tests are also done to tell if someone has the disorder. One of such tests is called a bone marrow aspirate; which involves the insertion of a needle into the bone and the drawing of a small amount of bone marrow fluid to study it under a microscope. This study can determine the presence of DBA in a patient. 

Just like with other forms of anemia, children suffering Diamond Blackfan Anemia have the same looks. They are characterized by slow growth – where they may go into stages such as puberty later than others; paleness of skin, lethargy and so on. See symptoms for more. 

The prognosis of a disease refers to a forecast of the possible outcome of the Diamond Blackfan Anemia. The prognosis of the disease may include the following factors:

• The duration of DBA
• The chances of implications
• Prospects for recovery
• Probable recovery period
• The survival rate
• The death rate 

Possible outcomes include the fact that anemia is often progressive and severe. Also, it has been found that spontaneous remissions can occur but are seldom.

Diamond Blackfan Anemia life expectancy

For patients suffering from this disorder, it is unlikely to predict exactly how long they would live. However, by administering the right treatment and carefully managing the disease, the patient should potentially live a healthy and long life. Additionally, there have been cases where the affected child has reached adulthood as a result of remission during treatment.

Also known as Blackfan Diamond Anemia, the disease Diamond Blackfan Anemia was first discovered by Hugh W. Josephs in 1936. The condition was not named after its discoverer, however the disorder is named after pediatricians: Dr. Louis K. Diamond and Dr. Kenneth D. Blackfan who were the first to document cases of the disease in the 1930s. They were also the first doctors to describe congenital hypoplastic anemia in 1938.

There are several notable cases of the occurrence of the condition, Diamond Blackfan Anemia; one example is the case of an American girl from Kentucky named Audrey Nethery. She has gathered a large following online through her singing and dancing videos. This brought her into the limelight and brought awareness to the disorder bringing enough exposure and public attention. Another case of this rare disease happened to a British family with two daughters being diagnosed of the same disease; this happened in a scenario that doctors have termed “unheard of". 

Affected populations

Diamond Blackfan Anemia affects both males and females in equal numbers, and it is evenly distributed among ethnic groups. It is known that less than 1,000 people are suffering from the disorder, which estimates to about 7 people per million of the population.

It has been proven that Diamond Blackfan Anemia can be managed if enough care is given to the children suffering from it; this is because children with DBA require a lifelong follow-up in order to manage the symptoms, therapies and the complications of the disease. It is also important to monitor the child especially after he or she has undergone bone marrow transplantation.

Although various other alternative methods are being studied to find a long-lasting solution to the disorder, the only available cure for Diamond Blackfan Anemia is through bone marrow transplantation.