A Family Guide to Non-Oncologic Blood Disorders
Wiskott Aldrich Syndrome
What is Wiskott Aldrich syndrome? Wiskott Aldrich syndrome (WAS) is an inherited immune system disorder characterized by an immune system that functions poorly, which can lead to frequent infections. The blood cells that help control bleeding, called platelets, are decreased, which may cause your child to bleed easily. WAS is caused by a mutation in a gene that affects the immune sys- tem. A gene is an inherited code of instructions that tells the body how to make every cell and protein in the body. The mutation that causes WAS affects a gene on the X chro- mosome, which comes from the mother. Disorders inherited on the X chromosome appear only in males. A mother with the mutated gene will not have the disease, but will be a carrier and she may pass the mutated gene on to her children. Even though the mothers themselves don’t experience any physical symptoms from the mutation, they can carry it and can pass it to their male children. What are some symptoms of WAS? Symptoms of WAS typically develop soon after birth or within the first year of life. The following are the most common symp- toms of WAS. However, each child may experience symptoms differently. Symptoms may include: • Low platelet levels (cells that help keep the body’s bleeding under control) » » Unexplained bruising » » Bleeding easily along the gums and frequent nose bleeds » » Petechiae (tiny red or purple spots under the skin) » » Blood in bowel movements • Eczema (an itchy rash) of the skin • Frequent infections because of too few B cells and T cells (i.e., cells in the body that help fight infection and produce antibodies) » » Ear and sinus infections » » Pneumonia • Children with WAS are at risk for developing: » » Autoimmune diseases because the body is vulner- able for other diseases to “attack itsself” » » Anemia
» » Arthritis » » Inflammatory bowel disease (IBD)—a group of dis- eases that cause swelling of the colon and small intestines » » Nephritis (kidney inflammation) » » Lymphoma and other types of cancers How is WAS diagnosed? A diagnosis of WAS is usually considered in any male with easy bruising or bleeding (typically if noticed at birth), a history of
frequent infections, or based on the following: • Complete medical history and family history • Physical examination of your child • Specific blood tests • Frequent infections • Presence of autoimmune disorder or lymphoma
What tests and procedures will my child need? A diagnosis of WAS typically is made during the first year of life. However, as it is an inherited disorder, it is always present at birth. Your child may need the following tests: • Blood work » » Complete blood count (CBC)—will show a de- creased number of platelets (cells that help the blood in the body clot) and platelet size that is smaller than normal » » Immunoglobulins—levels of antibodies in the blood will be low, specifically IgM » » WAS protein levels—missing or decreased WAS protein in the white blood cells » » Specific antibody titer—measures a decreased antibody response to vaccines » » Specific genetic testing—mutations in the WASP gene on the X chromosome How is WAS treated? Stem cell transplant (SCT) is the only curative option. Be- low are treatment options to help alleviate the symptoms of WAS:
Wiskott Aldrich Syndrome
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