Megaloblastic Anemia - Assignment Example

An absence of this factor is the most cause of pernicious (megaloblastic anemia). Children inherit this condition when this condition happens low levels of factors produce a symptom of juvenile pernicious anemia in the children's less than the age of 10. (Intelihealth). Nyhan syndrome or Lesch-Nahyan syndrome is a disorder that is caused by the deficiency of an enzyme hypoxanthine-guanine phosphoribosyltransferase(HGPRT). Lack of this enzyme, the human body restricts the utilization of vitamin B12 leading to megaloblastic anemia.

(Lesch-Nyhan Syndrome). Apart from cobalamin and folate deficiency, the molecular basis for the megaloblastic anemia is in the failure in the synthesis and assembly of DNA. (Megaloblastic anemia). Other causes include cytotoxic drugs that interfere with DNA synthesis. Alcoholism, pregnancy, fish tapeworm infestation, failure to replicate chromosomes due to lack of the nucleotides thymidine and the disruption of intestinal flora due to antibiotic uses are some of the other causes of megaloblastic anemia.

(Megaloblastic anemia). Anecdotal evidence suggests that in all cases of megaloblastic anemia caused by a deficiency of Vitamin B12 or folate, the patients will have an elevated MCV and a high HDW (Siemens, 2007). In cases of chemotherapy-induced macrocytosis, the patients should have a normal or raised HDW (Siemens, 2007).  The tests that are used to diagnose megaloblastic anemia primarily are routine tests like a blood test which included both complete blood count (hemoglobin and hematocrit) (Pernicious anemia).

Very large oval blood cells and the presence of abnormally shaped neutrophils are an indication of megaloblastic anemia. The physician enquires about complete medical history and physical examination, diagnostic procedures for the disorder. The physical exam includes: 1) checking for pale or yellowish skin and a red and smooth tongue; 2) Listening of the heart to check the rapid heartbeat or murmur; 3) feeling the abdomen to check the size of the liver. (Pernicious anemia)Vital tests are also done to check the vitamin B12 level, folic acid.

Homocysteine is high in anemia due to a lack of cobalamin. The level of methylmalonic acid is also high in anemia due to a lack of vitamin B12 or folate. Other blood tests include the presence of intrinsic factor antibodies and parietal cell antibodies. The levels of bilirubin, potassium or cholesterol in the blood are also confirmed. The serum iron and the iron-binding capacity are also checked. A reticulocyte count is also checked to confirm if the bone marrow is producing RBCs at a proper rate.

The reticulocyte number is low in patients suffering from Pernicious anemia. (Pernicious anemia)A schilling test is one of the very important tests that are being carried out in patients with this disorder. This test is done to detect vitamin B12 absorption. Cobalamin levels are measured after the ingestion of radioactive Vitamin B12. In a normal scenario, the ileum absorbs more than the body and excreted out in urine but when a patient has megaloblastic anemia.