A Rare Disease, Paroxysmal Nocturnal Hemoglobinuria

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Introduction:
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare disease affecting 1-4 people per million. The median survival rate is 10-15 years, with 35% of patients diagnosed with PNH dying within five years3. PNH is characterized by thrombocytopenia, leucopenia, and thrombosis . Paroxysmal Nocturnal Hemoglobinuria should be suspected when the patient has hemoglobinuria with a negative Coombs test, aplastic anemia, and myelodysplastic syndrome . PNH often goes undiagnosed and because of the high morbidity associated with PNH, it is necessary to establish an assay able to detect and diagnose PNH. Flow cytometery provides the best methodology for detection of PNH clones and it is both more sensitive and specific than current assays used such as Ham and Sucrose Hemolysis test. In addition, PNH tests are mail out, therefore, there exists potential revenue and cost savings if Baylor Scott and White is able to perform the assay in-house. A multiparameter flow cytometric assay will be modified that will be capable of monitoring and diagnosing PNH clones; thus improving the patient’s likelihood of survival and prognosis.
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a hemolytic anemia that is a result of a somatic mutation in the hematopoietic stem cell that arises from the bone marrow. The somatic mutation occurs in the Phosphatidylinositol glycan complementation group A (PIG-A) gene. PIG-A is responsible for the assembly and production of Glycosylphosphatidylinositol (GPI) proteins which are present on blood cells. The gene encodes for the protein glycosyltransferase which is an integral component in the creation of the GPI anchors present on blood cells (RBC’s) . GPI proteins are necessary in keeping proteins attached to the s...

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...ddition, compensation will be necessary to reduce fluorescent crossover from each individual antibody. After the proper dilutions are determined, and the correct parameters are determined, analysis of patients will begin. The analysis will be completed on patients with PNH and normal patients as well. Because PNH is a rare malignancy, positive PNH specimens will be ordered to assess and confirm the proper parameters were established, and the sensitivity for detection of PNH clones is acceptable.
Data Analysis
The data gathered will assess the sensitivity of the assay with known positive PNH samples, and determine if the proper parameters were established for detection of PNH clones. Histograms and scatter plots will be included in the data analysis to analyze the different clinical findings associated with PNH and also to compare how a normal population appears.

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