Blackfan Diamond Anemia: Rare Form of Anemia

Blackfan Diamond Anemia is a rare disorder that children are affected with at birth. With this type of anemia, children's bone marrow does not produce the amount of red blood cells that it should, in fact, it only produces a very small amount, if any.

This is a very uncommon type of anemia. In the whole world, there is only about 600-700 people with Blackfan Diamond Anemia. An exact cause has not been identified yet, but in about a fourth of the cases, there is a genetic error on a chromosome which is believed to be, at least, a part of the cause. In other cases, this disorder has been attributed to family history, but in over half of the people diagnosed with Blackfan Diamond Anemia, there has been no cause found.

Although children are born with this disease, it is not always diagnosed right away. About one-third of children who are born with Blackfan Diamond Anemia are born with physical deformities as well. Some children have been born with things such as heart problems and hand deformities because of this disease. It can be hard to diagnose because it is so rare and not many doctors have come into contact with it. It is usually found by the parents who notice that there is something not normal about their baby, and the disease can go undiagnosed for two years of the child's life. It most commonly misdiagnosed as just plain anemia.

Red blood cells are the ones that provide a person's body with oxygen. Since the bone marrow of baby's who have Blackfan Diamond Anemia does not produce enough red blood cells, the baby can be very pale. Other symptoms can include irregular heartbeat, because the heart is working very hard to keep the oxygen flowing through the body, the child can become tired extremely easily, they can also become irritated very easily, and fainting is not out of the ordinary. The symptoms can very in terms of seriousness, they can be mild, and not put the child's life in danger, but they can also be very serious, which does put the child's life at risk.