Week 4 – Study Questions .docx

Week 4 – Study Questions 1. What are the reference ranges for normal haemoglobin in adults 2. Answer in brief, the genetics involved in α and β thalassaemia α-Thalassaemia  Four genes involved (2 α-chains from each parent)  α-chains affected by structural gene deletions  Single gene deletion leads to low MCV, MCH & MCHC  4 genes deletion leads to death in utero (Hydrops fetalis) ß-Thalassaemia  ß-chains  Poin

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  Week 4  –  Study Questions 1. What are the reference ranges for normal haemoglobin in adults 2.  Answer in brief, the genetics involved in α and β thalassaemia   α -Thalassaemia    Four genes involved (2 α -chains from each parent)    α -chains affected by structural gene deletions   Single gene deletion leads to low MCV, MCH & MCHC   4 genes deletion leads to death in utero (Hydrops fetalis) ß-Thalassaemia   ß-chains   Point mutations (>400) prevent gene expression   Two genes involved   Mutations in intergene controlling sites ↓  mRNA & therefore ↓  globin chain production 3. Explain the principle behind haemoglobin electrophoresis Hb electrophoresis   Every major Hb has an electrical charge of a different degree   Hb components from dissolved red blood cells subjected to an electric field   The components move away from each other at different rates   Series of distinctly pigmented bands formed on separation   These bands compared with those of a normal sample / ladder / control   Each band can be further assessed as a percentage of the total haemoglobin, indicating the severity of any abnormality 4. How do cells sickle?   Common symptomatic haemoglobinopathy    In the deoxy form haemoglobin S distorts RBC making it rigid and produces the Sickle Cell   Re-oxygenation of Hb returns cell to normal shape, however repeated sickling causes irreversible membrane changes (making the RBC leaky and rigid) until removed by phagocytosis in the spleen, liver and bone marrow   HbS has decreased oxygen affinity, increasing deoxy HbS producing sickled cells   Most mutations cause clinical signs of disease by affecting solubility, function and/or stability of the Hb molecule   Confers resistance against Plasmodium falciparum 5. What is aplastic anaemia? What is the striking feature you would commonly see in the blood film of a patient with aplastic anaemia?   Rare bu potentially fatal BM failure syndrome   Pancytopenia, reticulocytopenia, BM hypocellularity, depletion of haematopoietic stem cells   Acquired or inherited  Aplastic anemia is a rare disease in which the bone marrow and the hematopoietic stem cells that reside there are damaged. [1]  This causes a deficiency of all three blood cell types (pancytopenia): red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). [2][3]  Aplastic refers to inability of the stem cells to generate mature blood cells. It is most prevalent in people in their teens and twenties, but is also common among the elderly. It can be caused by heredity, immune disease, or exposure to chemicals, drugs, or radiation. However, in about half the cases, the cause is unknown. [2][3]  The definitive diagnosis is by bone marrow biopsy; normal bone marrow has 30  – 70% blood stem cells, but in aplastic anemia, these cells are mostly gone and replaced by fat. [2][3]    First line treatment for aplastic anemia consists of  immunosuppressive drugs, typically either  anti-lymphocyte globulin or  anti-thymocyte globulin, combined with corticosteroids and ciclosporin. Hematopoietic stem cell transplantation is also used, especially for patients under 30 years of age with a related matched marrow donor . [2][3]  6. What is haemolytic anaemia? What are the 4 categories of classification? Chapter 24 and 25 7. What are the different types of acquired haemolytic anaemia? Chapter 24 and 25 8. Write a detailed essay on autoimmune haemolytic anaemia’s.  Chapter 24 and 25
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