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Summary Our study involves the analysis of normal and abnormal cells in the bone marrow of patients with Paroxysmal Nocturnal Hemoglobinuria PNH. In this condition, due to a gene mutation , some bone marrow cells and their progeny in the blood lack an important cell surface component that functions as an anchor for other proteins, some of which attach to blood cells and protect them from destruction by complement, part our immune system. The result of this deficiency is a breakdown of red cells. If large quantities of red cells are destroyed, people become very tired, or have pain in the belly, head or when swallowing, or develop blood clots. The cause of the gene mutation is unknown. Some patients with other conditions, such as aplastic anemia AA, a disease where marrow stops producing blood cells , or myelodysplasia MDS, a disease associated with a tendency to transform into leukemia , may develop PNH. It is not clear what makes this change occur, and when it happens, patient may not even be aware of it, because patients with AA and MDS usually have few cells of the PNH type.

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