The Symptoms and Diagnosis of a Patient Suffering from Haemolytic Anaemia - Essay Example

?Describe the symptoms and diagnosis of a patient suffering from 'Haemolytic Anaemia'. Introduction If the haemoglobin level in the red blood cells or packed cell volume of red blood cells (haematocrit) is lesser than the lower limit of 95 % reference interval for the individual’s age, gender, and geographical location, it is considered to be an anaemic condition. There are many types of anemia with different causes and manifestations. Although there are many classifications of the condition, the one based on major pathophysiological characteristics gives three major categories and they are easier to understand than others. They are accelerated erythrocyte destruction, blood loss and impaired red blood cell production (Turgeon, 2005, p. 113). Hemolytic Anaemia Hemolytic anaemia is characterized by increase in erythrocyte destruction caused mainly by trapping of cells in sinuses of the spleen or liver and producing a decrease in the normal average life span of the erythrocyte. Bone marrow activity increased as a result would only compensate the loss temporarily. On failure of bone marrow to produce enough erythrocytes to compensate the loss, anaemia develops (Turgeon, 2005, p. 157). The shelf-life of red blood cell is found to be less than the normal span of 120 days resulting in anemic conditions in spite of bone marrow’s capacity to increase red cell production several times which is however inadequate to compensate the loss. This is the condition observed in haemolytic anaemia. Folate deficiency also occurs because of the increased requirements of folate when red blood cell production increases. Haemolysis can be congenital or acquired. Clinical conditions of this type of anaemia are pallor, jaundice, and variably splenomegaly. Those chronically hyperbilirubinaemic are vulnerable to develop pigment gallstones and this can lead to obstructive jaundice (Davey, 2012, p. 340). Common causes of haemolytic anaemia are of two types. In congenital/hereditary type, the causes are “Hereditary spherocytosis, Glucose -6-phosphate dehydrogenase (G6PD) deficiency, Pyruvate kinase deficiency, Sickle cell anaemia and Thalassaemia” (Davey, 2012, p. 341). Due to a hereditary biochemical lesion in individuals of mainly of Greek descent, Favism is common. It is an acute hemolytic anaemia caused by the ingestion of the fava bean. Antibodies generally produced in the body to fight infections, attack red blood cells for unknown reason. Sometimes it may be due to blood transfusions. It can also be due to use of medicines that can damage red blood cells. It has been advised not to take any medicine that has triggered haemolytic anaemia in the past. The inherited disorder is not curable though symptoms can be controlled. (W.B.SaundersCompany, 1998, p. 1). Thalassaemia It was Thomas B Cooley (1871-1943) who first described the severe, life-threatening Thalassaemia. His first ever abstract of the disease found in five young children described the condition as anaemia and enlargement of the spleen and liver besides discoloration of the skin and mongoloid appearances of the skull (Weatherall, 2010, p. no page no). In the condition of Thalassaemia, production of hemoglobin is interrupted resulting in anaemia and thus reduced oxygen carrying capacity leading the patient to be tiresome, breathless, drowsy and fainted. Thalassaemia is manifested by alterations or mutations in the genes that are responsible for haemoglobin production. To function properly, haemoglobin requires pairs of alpha chain and beat chain proteins. The alpha chain is made up of four genes, two on each chromosome 16. The severity of the condition depends on number of genes that have been mutated. If one, there is no effect. If two, there is a mild form of alpha thalassaemia. In case of mutation of three genes, haemoglobin H disease occurs requiring lifelong blood transfusions. If four genes are mutated, the most severe form of alpha thalassaemia major occurs. Beta thalassaemia major is again the most severe form requiring lifelong blood transfusions once detected. Its milder forms are “beta thalassaemia intermedia (BTI)” and “non- transfusion dependent thalassaemia (NTDT)”. The only treatment is bone marrow transplant and cord blood transplantations though they can cause complications in some and hence are not suitable for all. In Beta thalassaemia major, the problem is frequent blood transfusions that will result in buildup of iron in the body to remove which affected patients have to undergo chelation therapy. Complications in thalassaemia are enlarged spleen, hormone complications including delayed puberty and stunted growth, arrhythmia, hepatitis bone and joint pain and osteoporosis (Anonymous, n.d.). In acquired type, the causes are Infection, Autoimmune, Drug-induced, Cardiac (typically across a prosthetic heart valve), Haemolytic transfusion reaction, Microangiopathic (e.g. haemolytic uraemic syndrome, thrombotic thrombocytopenic purpura) and Paroxysmal nocturnal haemoglobinuria (Davey, 2012, p. 341). It can be cured by withdrawing the drug that has caused the anaemia and it may also become necessary to surgically remove the spleen (W.B.SaundersCompany, 1998). Autoimmune hemolytic anaemia (AIHA) It has been recently found that it occurs in people administered with “purine nucleoside analogues for hematologic malignancies” (Hoffman, 2006 , p. 13). It also results from blood transfusion complications in people who have received “alloiimmunization”. It is caused by donor related mismatching of “ stem cell transplantation” (Hoffman, 2006 , p. 13) products. Even though the syndrome is transient, it may become very serious. Another similar syndrome is found in patients who have received “solid organ transplants when there is ABO-incompatibility between the donor and the recipient” (Hoffman, 2006 , p. 13). “Venous thromboembolism” (Hoffman, 2006 , p. 13)is another complication of AIHA. There are newer options of treatment for people non responsive to “corticosteroids” (Hoffman, 2006 , p. 13) and spleen surgery, such as “mycophenolate” (Hoffman, 2006 , p. 13) a new immunosuppressive. In complicated cases of AIHA, particularly rituximab is the best remedy (Hoffman, 2006 ), (Paydas, 2004), (O'Brien, Eastlund, Peters, & etal, 2004), (Pullarkrat, Iqbal, Espina, & Liebman, 2002) Laboratory tests show evidence of red blood cell breakdown in increased quantities: presence of increased unconjugated plasma bilirubin which is a breakdown element of haem. Raised plasma lactate dehydrogenase (LDH) released from damaged red cells, low or absent plasma haptoglobin (binds avidly to free plasma haemoglobin), radioisotope studies (though seldom performed) showing a shortened red cell lifespan, blood film examination reveals ploychromasia (resulting from the residual RNA found in young but not old red cells) and raised reticulocyte count is found, both indicative of red cell production (Davey, 2012, p. 341). Symptoms Fatigue, shortness of breath, irregular heartbeat, jaundice (yellow skin, yellow eyes and dark urine) and enlarged spleen. Excessive spleen enlargement that enhances destruction red blood cells is a possible complication in addition to pain, shock, and gallstones (W.B.SaundersCompany, 1998). Diagnosis and treatment of hemolytic anaemia in general Apart from the findings of general features of haemolysis, Heinz bodies caused by denaturation of unstable haemoglobin are found in red blood cells (RBCs). Red cell G6PD activity is low i.e (< 20 % of normal). Treatment is transfusion if necessary and by avoidance of triggers (Davey, 2012, p. 341). The ribavirin dose reduction and use of erythropoietin (a growth factor hormone) to induce red blood cell production are the two recommended treatments when the hemoglobin concentration falls below 10g/dL or when there is steep fall in hemoglobin level within a short period of time. People with cardiac disease should be monitored when their hemoglobin levels begin to fall. Ribavirin or HCV therapy should be stopped on steep fall in the level especially when it goes below 8.5 g/dL However Ribavirin reduction should be avoided during the first 12 weeks of treatment to prevent relapse and gain a sustained virologic response (Franciscus, 2012). References Anonymous. (n.d.). Thalassaemia . Retrieved May 20, 2013, from NHS Choices : Available at accessed 20 May 2013. Davey, P. (2012). Medicine at a Glance (3 ed.). Oxford: John Wiley and Sons. Franciscus, A. (2012). HCSP Fact Sheet . Retrieved May 20, 2013, from Hemolytic Anemia: Available at accessed 20 May 2013. Hoffman, P. C. (2006 ). Immune Hemolytic Anemia—Selected Topics. Hematology , 13-18. O'Brien, T et al., "Autoimmune ……………diseases" Br J Haematol , 127, 67-75. Paydas, S. (2004). Fludarabine-induced hemolytic anemia: successful treatment by rituximab. Hematol J , 5, 81-83. Pullarkrat, V. N., Iqbal, S., Espina, B., & Liebman, H. (2002). "Detection …..thromboembolism". Br J Haematol , 118, 1166-1169. Turgeon, M. L. (2005). Clinical hematology:theory and procedures, Volume 936 (4 ed.). Philadelphia : Lippincott Williams & Wilkins. W.B.SaundersCompany. (1998). Anemia, Hemolytic .Available at < web.squ.edu.om/med-lib/med_cd/e_cds/.../pdf/Pg019.pdf? > accessed 20 May 2013 Weatherall, D. (2010). Thalassaemia: The Biography. Oxford: Oxford University Press. Read More