What is Black Diamond Anemia

The central portion of our bone contains a soft, spongy substance called the bone marrow. It produces all the four basic components of blood. They are the red blood cells, the white blood cells, the platelets and the plasma. When the bone marrow cannot produce the red blood cells in sufficient amount, the condition is called as Black Diamond Anemia. This article tries to gain further insight on this topic.

Symptoms of Black Diamond Anemia:

It is a rare disorder. The exact cause of this disorder is not known. In 25 percent of the cases, an error in the chromosome 19 of the gene RPS19, causes this disorder. In approximately 10-20 percent of cases, the disorder is found to be genetic. Mostly this defect is found in children. Red blood cells provide oxygen to the entire body. Identification of signs of this disorder is hard. However, lack of production of red blood cells can cause:

  • Paleness
  • Fatigue
  • Irritability
  • Fainting
  • Irregular heart beat as the organ finds it hard to pump oxygen rich blood to the entire body.

Diagnosis and Treatment of Black Diamond Anemia:

It is not easy to diagnose this rare disease. Many doctor are unaware about this disease. The disorder takes first two years after a child’s birth to be diagnosed through parental observations. Blood cell count test and biospy of bone marrow can reveal that there are very less number of red blood cells present and created off late. As a part of treatment technique, 70 percent children respond positively to the drug Prednisone. It stimulates the production of new red blood cells. The child has to take this drug for the entite life time. The drug can stop responsding at any time. The intake of drug has serious side effects too like diabetes, glucoma and high blood pressure. The only available cure of this disorder is undergo bone marrow transplantation.

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