Shwachman Diamond Syndrome

Shwachman Diamond syndrome is an acquired condition that influences numerous part of body, particularly the bone marrow, pancreas, and bones. the main function of bone marrow is to supply new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are blood cells that are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and doesn't make some or all kinds of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. The vast majority with Shwachman-Diamond syndrome have atleast of occasional episodes of neutropenia, which makes them progressively vulnerable infections, often involving the lungs (pneumonia), ears (otitis media), or skin. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications associated with their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders caused by abnormal blood stem cells, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML).    

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