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Chédiak–Higashi syndrome [1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism , and peripheral neuropathy .
Symptoms depend on the type of thalassemia and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms of anemia include feeling tired and having pale skin.
Red blood cells normally survive an average of about 120 days, becoming damaged (their oxygen-carrying capacity becomes compromised) as they age.
Symptoms of hemolytic anemia are similar to the general signs of anemia. [2] General signs and symptoms include fatigue, pallor, shortness of breath, and tachycardia. [2] In small children, failure to thrive may occur in any form of anemia. [6] [7] In addition, symptoms related to hemolysis may be present such as chills, jaundice, dark urine ...
Individuals with TEC have a median age of presentation of 18–26 months; however, the disorder may occur in infants younger than 6 months and in children as old as age 10 years. Because of the gradual onset of the anemia, children are often healthier than expected from their low hemoglobin levels. [citation needed]
Microangiopathic hemolytic anemia may be suspected based on routine medical laboratory tests such as a CBC (complete blood cell count). Automated analysers (the machines that perform routine full blood counts in most hospitals) are designed to flag blood specimens that contain abnormal amounts of red blood cell fragments or schistocytes .
That includes folks with an autoimmune disorder called pernicious anemia, who are unable to absorb B12, and people who take a lot of over-the-counter stomach-acid reducers, like famotidine ...
Related symptoms and signs include lethargy, decreased urine output, blood in the urine, kidney failure, low platelets, (which are needed for blood clotting), and destruction of red blood cells (microangiopathic hemolytic anemia).
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