Diamond Blackfan Anemia

Diamond Blackfan Anemia - Associated with Birth Defect/Abnormal Features 

Diamond Blackfan Anemia – DBA is a type of rare blood disorder which is associated with birth defects or abnormal features where the bone marrow, the centre of the bone where the blood cells develop, does not develop adequate red blood cells to carry the oxygen to the various parts of the body.

This disorder is generally diagnosed during the initial stage of life and some may tend to have a family history of this ailment. Around one half of the people with this disease tend to have a known genetic cause and in most of them, the cause of DBA is not known.

Those suffering from DBA have symptoms which are common to all the other kinds of Anemia which include pale skin, rapid heartbeat, sleepiness and heart murmurs. In some cases there could be no obvious physical indications of DBA, though 30 to 47% tend to have birth defect or abnormal feature which could involve the face, hands, especially the thumbs, and the head. Several children tend to be short for their age and could start puberty later than their normal age. DBA could affect boys as well as girls and could occur in every ethnic group.

Test Conducted for DBA

Anemia got its name from the doctors Louis K. Diamond and Kenneth D. Blackfan who first documented cases of the disease in 1930s. Many tests are conducted to identify if a person is suffering from DBA, one of which is the known as a bone marrow aspirate.

A needle is inserted into the bone and a small content of bone marrow fluid is taken out and is studied under microscope. Besides this, blood tests are also done to see if there is a genetic basis for DBA or specific chemical abnormalities linked to this disorder.

To treat the low red blood cell counts in a person suffering from DBA, two common options can be adopted namely corticosteroids and blood transfusions. Stem cell transplantation/Bone marrow could also be considered. Corticosteroids are drugs which are used in treating several medical conditions and one type of it is known as oral prednisone which is one of the most effective treatments for children suffering from this disease.

Treatments

There could be several side effects while using these drugs in high doses for a long period of time which would comprise of weight gain, salt and water retention, high blood pressure, muscle weakness, osteoporosis – brittle bones which could occasional lead to fractures, wounds which do not tend to heal, growth problems, headaches, problems with the eyes like cataracts and glaucoma with the disruption of hormones which regulate normal functions of the body, including diabetes.

 With blood transfusion, the person receives healthy red blood cells from a donor and this transfusion may be needed every 3 to 5 weeks. However, at times the person may tend to develop transfusion reaction with rash and fever and medication can be given prior to the next transfusion to prevent the occurrence of these symptoms.

Moreover, red cell transfusion could also lead to a build-up of additional iron in the body which could be harmful to the heart and/or liver resulting in diabetes or slowdown in the normal growth. Hence iron content needs to be checked regularly. If the iron content is too high, a process known as chelation therapy is adopted to remove excess iron content in body tissues.