Bone Marrow Failure And Shwachman
Do you know someone who has Shwachman-Diamond Syndrome? Shwachman-Diamond Syndrome (SDS) occurs when someone has a bone marrow failure in which the white blood cell (WBC) count is low so the body is not able to fight off infection and the red blood cell (RBC) count is low and they may also be larger than normal size of cells which will lead to the condition known as anemia. These individuals can also have a low platelet count. Platelets help the blood to clot over areas of the blood vessels where there is damage and bleeding has occurred.
Shwachman-Diamond Syndrome is typically diagnosed within the first year of life and what usually tips the doctor off that there may be something wrong is short stature and on x-rays problems with the bones known as metaphyseal dysostosis is seen. Both male and female babies can be diagnosed with this syndrome and they are usually diagnosed within the first 12 months of life. Babies with Shwachman-Diamond Syndrome have malabsorption, which is poor food absorption.
A condition known as aplastic anemia is diagnosed when all three blood cell types as described above happens as a result of bone marrow failure. There are other bone marrow failure syndromes and blood conditions and some are rare. Shwachman-Diamon syndrome is specific in that there is also a reduction in the digestive enzyme production by the pancreas, a low serum trypsinogen and isoamylase (which are digestive enzymes), low pancreatic enzymes after being stimulated by the pancreas and also the pancreas is small or fatty as seen on CT scan imaging or by ultrasound images. The bone marrow failure is discovered through low neutrophils in at least 3 separate blood testing and also low hemoglobin or platelet counts during blood testing.
Shwachman-Diamond Syndrome is an autosomal recessive inherited disease in which a person has two abnormal or mutant copies of the SDS gene. Laboratory tests cannot identify this genetic mutation in some individuals with the syndrome. The mutant gene is called SBDS or Shwachman Bodian Diamond Syndrome.
As with most blood disorders that involve the bone marrow there is the possibility of developing cancer and with Shwachman-Diamond Syndrome the cancer that is leukemia. Leukemia is a blood and bone marrow cancer.
Doctors use different tests to help them diagnose Shwachman-Diamond Syndrome including a low serum trypsinogen and isoamylase test and a test that will determin the amout of fat in the stool as well as a CT scan and ultrasound that will distinguish the pancreas to see if it is small or has fatty deposits. Blood tests can determine if the while blood cell or red blood cell counts are low and what the platelet count is to see if that is normal or not. Genetic testing may be done to help isolate the SDS gene to see if it is mutated. A mutated gene that has the SBDS mutated gene stands for the Shwachman Bodian Diamond Syndrome.
Recommended Reading
- Pearson Syndrome A Inherited Bone Marrow Failure
- Myelodysplastic Syndrome A Blood Disorder
- A Look At Leukemia
- Understanding Blood Disorders
- The Blood Disorder Bernard
