Seminar blood disorders


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Seminar blood disorders

  3. 3.  Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.
  4. 4.    Sickle cell disease is prevalent in many parts of India, where the prevalence has ranged from 9.4 to 22.2% in endemic areas. Sickle cell anemia affects millions throughout the world. It is particularly common among people whose ancestors come from sub-Saharan Africa; Spanish-speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.
  5. 5.  Sickle cell anemia is inherited disease caused by an abnormal type of hemoglobin called hemoglobin S.
  6. 6.    A point mutation in the β-globin chain of haemoglobin Amino acid glutamic acid replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome .The association of two wildtype α-globin subunits with two mutant βglobin subunits forms haemoglobin S (HbS).
  7. 7.       Under low-oxygen conditions (being at high altitude, for example), the absence of a polar amino acid at position six of the β-globin chain promotes the noncovalent polymerisation (aggregation) of haemoglobin, Distortion of red blood cells into a sickle shape Repeated episodes of sickling damage the cell membrane Decrease the cell's elasticity. Rigid blood cells are unable to deform as they pass through narrow capillaries Vessel occlusion and ischaemia.
  8. 8.    Symptoms usually do not occur until after age 4 months. Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can cause pain in the bones of the back, the long bones, and the chest. Younger children with sickle cell anemia have attacks of abdominal pain.
  9. 9.       When the anemia becomes more severe, symptoms may include: Fatigue Paleness Rapid heart rate Shortness of breath Yellowing of the eyes and skin (jaundice)
  10. 10.      The following symptoms may occur because small blood vessels may become blocked by the abnormal cells: Painful and prolonged erection (priapism) Poor eyesight or blindness Problems with thinking or confusion caused by small strokes Ulcers on the lower legs (in adolescents and adults)
  11. 11.      Over time, the spleen no longer works. As a result, people with sickle cell anemia may have symptoms of infections such as: Bone infection (osteomyelitis) Gallbladder infection (cholecystitis) Lung infection (pneumonia) Urinary tract infection
  12. 12.   Delayed growth and puberty Painful joints caused by arthritis
  13. 13.         Tests commonly performed to diagnose and monitor patients with sickle cell anemia include: Bilirubin Blood oxygen Complete blood count (CBC) Hemoglobin electrophoresis Serum creatinine Serum potassium Sickle cell test
  14. 14.     Treatment for a sickle cell crisis includes: Blood transfusions (may also be given regularly to prevent stroke) Pain medicines Plenty of fluids
  15. 15.     Other treatments for sickle cell anemia may include: Hydroxyurea (Hydrea), a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease Bone marrow or stem cell transplants can cure sickle cell anemia.
  16. 16.         Treatments that may be needed to manage complications of sickle cell anemia include: Dialysis or kidney transplant for kidney disease Counseling for psychological complications Gallbladder removal in people with gallstone disease Hip replacementfor avascular necrosis of the hip Surgery for eye problems Treatment for overuse or abuse of narcotic pain medicines Wound care for leg ulcers
  17. 17.     People with sickle cell disease must reduce their risk of infections. This includes receiving certain vaccinations, including: Haemophilus influenzae vaccine(Hib) Pneumococcal conjugate vaccine(PCV) Pneumococcal polysaccharide vaccine(PPV)
  18. 18.     Acute pain related to tissue hypoxia due to agglutination of sickle cells with in blood vessels Risk for infection related to immunocompromised state Risk for powerlessness related to illness induced helplessness Deficient knowledge regarding sickle crisis prevention
  19. 19.      Managing pain Preventing and managing infection Promoting coping skills Minimizing deficient knowledge Monitoring and managing potential complications
  21. 21.  Polycythemia(also known as polyglobulia) is a disease state in which the proportion of blood volume that is occupied by red blood cells increases.
  22. 22.     ABSOLUTE (The overproduction of red blood cells may be due to a primary process in the bone marrow (a socalled myeloproliferative syndrome), or it may be a reaction to chronically low oxygen levels or, rarely, a malignancy) PRIMARY (Polycythemia vera (PCV), polycythemia rubra vera (PRV), or erythremia, occurs when excess red blood cells are produced as a result of an abnormality of the bone marrow ) SECONDARY Secondary polycythemia is caused by either natural or artificial increases in the production of erythropoietin, hence an increased production of erythrocytes
  23. 23.    ALTITUDE RELATED Secondary polycythemia can be induced directly by phlebotomy (blood letting) to withdraw some blood, concentrate the erythrocytes, and return them to the body. HYPOXIC DISEASE-ASSOCIATED Cyanotic heart disease where blood oxygen levels are reduced significantly POLYCYTHEMIA CAUSED BY ALTERED OXYGEN SENSING Inherited mutations in 3 genes which all result in increased stability of Hypoxia Inducible Factors (HIFs), leading to increased erythropoietin production, have been shown to cause erythrocytosis:
  24. 24.     IATROGENIC (phlebotomy) GENETIC (This includes patients who have a special form of hemoglobin known as Hb Chesapeake) RELATIVE (Relative polycythemia is an apparent rise of the erythrocyte level in the blood; however, the underlying cause is reduced blood plasma)
  25. 25.   Polycythemia vera is a disorder of the bone marrow. It mainly causes too much production of red blood cells, although the numbers of white blood cells and platelets are also increased. It is a rare disease that occurs more often in men than women, and is rare in patients under age 40. It is usually associated with a gene mutation .The cause of this mutation is unknown.
  26. 26.          Breathing difficulty when lying down Dizziness Excessive bleeding Fullness in the left upper abdomen (due to enlarged spleen) Headache Itchiness, especially after a warm bath Red coloring, especially of the face Shortness of breath Symptoms of phlebitis
  27. 27.      Other symptoms that may occur with this disease: Bluish skin color Fatigue Red skin spots Vision problems
  28. 28.   History Physical exam Tests that may be done include:         Bone marrow biopsy Complete blood count with differential Comprehensive metabolic panel Erythropoietin level Genetic test for mutation Oxygen saturation of the blood Red blood cell mass Vitamin B12 level
  29. 29.       This disease may also affect the results of the following tests: ESR Lactate deydrogenase Leukocyte alkaline phosphatase Platelet aggregation test Serum uric acid
  30. 30.  A method called phlebotomy is used to decrease blood thickness. One unit of blood (about 1 pint) is removed weekly until the hematocrit level is less than 45 (males) or 42 (females). Then therapy is continued as needed.
  31. 31.  Some patients are advised to take aspirin to reduce the risk of blood clots, though it increases the risk for stomach bleeding. Ultraviolet-B light therapy can reduce the severe itching some patients experience.
  32. 32.       Acute myelogenous leukemia (AML) Bleeding from the stomach or other parts of the intestinal tract Gout Heart failure Myelofibrosis Thrombosis (blood clotting, which can cause a stroke, heart attack, or other body damage)
  33. 33.      Educator Risk factors for thrombotic complications are assessed Patients with history of bleeding is advised to avoid aspirin Instruct for minimal alcohol intake For pruritis advice for bath in tepid or cool water along with applications of cocoa butter based lotions and bath products
  34. 34.  Occasionally, chemotherapy (specifically hydroxyurea) may be given to reduce the number of red blood cells made by the bone marrow. Interferon may also be given to lower blood counts. A medicine called anagrelide may be given to lower platelet counts
  35. 35. HEMOPHILIA
  36. 36.  Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
  37. 37.    Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births. Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births. Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females
  38. 38.    Haemophilia A is a recessive X-linked genetic disorder involving a lack of functional clotting Factor VIII and represents 80% of haemophilia cases. Haemophilia B is a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX. It comprises approximately 20% of haemophilia cases. Haemophilia C is an autosomal genetic disorder (i.e. not X-linked) involving a lack of functional clotting Factor XI
  39. 39.  Internal or external bleeding episodes, which are called "bleeds".  Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma.  In both haemophilia A and B, there is spontaneous bleeding but a normal bleeding time, normal prothrombin time, normal thrombin time, but prolonged partial thromboplastin time.
  40. 40.  Internal bleeding(JOINT BLEED) is common in people with severe haemophilia and some individuals with moderate haemophilia.  If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement  Heavy bleeding from a dental procedure, an accident, or surgery.
  41. 41.     Deep internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb. Joint damage from Haemarthrosis(haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis. Transfusion transmitted infection from transfusions that are given as treatment. blood Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness.
  42. 42.    Haemophilia A can be mimicked by von Willebrand disease. von Willebrand Disease could significantly affect as many as 1 in 10,000 people. von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, VWD type 2A is inherited in an autosomal dominant fashion.
  43. 43.   von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII, autosomal recessive inheritance. (i.e.; both parents need to give the child a copy of the gene). von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.
  44. 44.  Commercially produced factor concentrates such as "Advate", a recombinant Factor VIII, come as a white powder in a vial which must be mixed with sterile water prior to intravenous injection.
  45. 45.  If a patient becomes refractory to replacement coagulation factor as a result of circulating inhibitors, this may be partially overcome with recombinant human factor VII (NovoSeven), which is registered for this indication in many countries
  47. 47.    Patients with hemophilia is instructed to avoid any agents that interfere with platelet aggregation such as aspirin,NSAIDS,herbs,nutritional supplyments and alcohol. If pt had rescent surgery the nurse frequently and carefully assess surgical site for bleeding Frequent vital sign monitoring is needed until the nurse is certain than there is no excessive postoperative bleeding.
  48. 48.       Analgesics are administered to allevate pain Advice for dental hygiene All injections and invasive procedures should be avoided Patients with hemophilia should be encouraged to carry or wear medical identification During bleeding heat application should be avoided Apply pressure to control bleed if factor deficiency is not much severe.
  49. 49. CONCLUSION
  50. 50.  THANK UUUUUU……