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HEMOGLOBINOPATHIES
MLT 126: HEMATOLOGY AND COAGULATION - ANEMIA/HEMOGLOBINOPATHY
| Question | Answer |
|---|---|
| True of false: Hemoglobinopathies are the most common form of genetic disorder, with most of them being due to a single amino acid subsitution | True |
| What is the difference between a "disease" and "trait", when it comes to categorizing hemoglobinopathies? | Disease=causes a hemolytic condition, homo or hetero gene Trait=asymptomatic host, has a hetero gene |
| What are the three main ways we categories Hemoglobinopathies? Which is the most common? | 1) Abnormal molecular structure or one or more chains in the Hgb (most common) 2) Defect in rate of synthesis in one or more polypeptide chains 3) Combination of both |
| What causes Sickle cell disease? | Valine is substituted in place of glutamic acid in the 6th beta chain position |
| What causes the sickling affect, and how can it affect the RBC long-term? | An excessive amount of calcium accumulates over time, causing the cell to lose water in-bulk when the calcium eventually leaves. This deoxygenation causes HgbS to form chains (polymerize) and can permanently damage the cell |
| The repetitive damage of the cell membrane in Sickle Cell Disease will result in anemia due to | hemolysis. |
| What affect do sickled cells have on the body? | It can lead to organ/tissue failure due to blockage of blood vessels and repetitive mechanical damage |
| What lab findings would correspond with Sickle Cell Disease | Low MCV/MCH, codocytes, basophilic stippling, aniso/poik, Howell-Jolly bodies- drepanocytes |
| True or false: When doing Hemoglobin electrophoresis, the HbA2 percentage for Sickle cell disease patients is normal | true |
| Why is Hydroxyurea a good medication to therapeutically use against Sickle Cell Disease? | It is a cytostatic that stimulates HbF, which inhibits polymerization of deoxyhemoglobin S |
| Following Hgb Electrophoresis, what results would we typically see in a patient with Sickle Cell disease? | 80-90% HbS 0-20% HbF Normal HbA2 |
| Describe Sickle Cell Trait | a heterozygous gene that causes HbS to appear alongside HbA, making the patient asymptomatic since HbA is able to compensate to keep up with improper RBC morphology |
| What would the Electrophoresis results show in a person with Sickle Cell trait? | 35-45% HbS 55-65% HbA |
| Describe Hemoglobin C disease and its affects our RBC morphology | It is a gene substitution of lysine for glutamic acid at the 6th beta position in HbA. This cause the formation of intracellular crystals (that can sometimes burst the cell, becoming extracellular), form 50%< target cells, and still have a normal MCV/MCH |
| What type of hemoglobinopathy will cause normocytic, normochromic hemolytic anemia due to abnormal 6th spot beta chains that cause an absence of HbA? | Sickle-C Disease |
| How can we differentiate Hemoglobin SC disease from Hemoglobin C disease? | there is no sickling of RBCs because they are folded, and the crystals are smaller and stay intracellular |
| What is the second most common hemoglobinopathy? What causes it? | Hemoglobin E disease, lysine is substituted for glutamic acid in the 26th beta chain position |
| In Hemoglobin E disease, electrophoresis is done to differentiate it from | iron deficiency anemia |
| What differentiates Thalassemia from other true hemoglobinopathies? | In Thalassemia, the alpha and beta chains are normal, but rate of synthesis alters the amount that are made (decreased), unlike true hemoglobinopathies that make abnormal chains |
| Which Beta Thalassemia varient would result in frequent blood transfusions? Why? | Cooley's disease; there are either zero Beta chains or very little beta chains produced |
| Which variant of Beta Thalassemia often causes microcytosis and abnormal RBC morphology due to a slight decrease in Beta chains | Thalassemia trait |
| Lab findings for Beta Thalassemia include | - low RBC, Hct, Hgb, MCV/MCH - increased reticulocytes, iron, TIBC, bilirubin - target cells, nucleated RBCs, polychromasia |
| What would the Hb results look like on a Beta Thalassemia patient's electrophoresis? | decreased HbA and increased HbF |
| What two hemoglobinopathies utilize electrophoresis to differentiate it from iron deficiency anemia? | Hemoglobin E disease and Alpha Thalassemia |
| Alpha Thalassemia is often associated with what type of disorders | Myeloisplasia |
| How can we diagnose Sickle-beta Thalassemia? | 60-90% HbS 10-30% HbF PBS=microcytic, hypochromic, basophillic stippling, target cells, polychromasia |
| In Alpha Thalassemia, the total absence of HgA forms gamma tetrad, resulting in a fatal disease called (blank), a state that is incompatible with life | Hydrops fetalis |
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