Anemia, Dr Nageeb aljunidi 2024.pdf

Clinical laboratories Dr: Nageeb. M. aljunidi Master in medical microbiology and immunology PhD candidate of medical Microbiology and Immunology Clinical laboratories Anemia ‫الانميياء‬ Nageeb aljunidi  Anemia...

Clinical laboratories Dr: Nageeb. M. aljunidi Master in medical microbiology and immunology PhD candidate of medical Microbiology and Immunology Clinical laboratories Anemia ‫الانميياء‬ Nageeb aljunidi  Anemia Definition Is decrease in hemoglobin concentration below the normal range according to the sex and ages ranges, as well as decrease in RBCs count and PCV. Anemia is a problem of not having enough healthy RBCs or hemoglobin to the body tissues. Nageeb aljunidi  Anemia It is the most common blood disorders. And there are many types of anemia varies in severity and causes. RBCs are non nucleated blood cells that contain the hemoglobin. Hemoglobin is a protein inside RBCs that carries the oxygen to body tissues, measures by g/dl. Nageeb aljunidi  Anemia Hb consist of two part including haem (Iron) and Globins proteins. There are three types of Hb present normally in adults each one consist of 4 globins chains including: Hb A: Alpha 2, Beta 2 represents ( 96-98%). Hb A2: Alpha 2 and Delta 2 represents about (2- 3.5%). Hb F: Alpha 2 and Gamma 2 represent (0.5 -1.0 %). Nageeb aljunidi Types of normal Hb in adults  Anemia classification Anemia can be classified by many and various methods including: 1- According to RBCs 2- According to the indices. etiology of anemia. (RBCs Morphology) 3- According to the severity of anemia.  Anemia classification 1- According to RBC indices (Morphology): The anemia classified according to the RBCs morphology regarding to RBCs indices (MCV and MCH) that describe the size of RBCs and amount of Hb inside RBC respectively, into 3 large groups: Microcytic Macrocytic Normocytic Hypochromic Normochromic Normochromic  RBC indices: Mean corpuscular Volume (MCV) Mean Corpuscular Volume (MCV): determines the RBCs sizes and measures by femtoliter (80-100 fl). - Low MCV means the RBCs is smaller than normal. - Increase MCV means RBCs is bigger than normal. - Normal MCV means normal RBCs size. Microcytic Macrocytic Normocytic MCV less than MCV more MCV: 80-100 fl 80 fl than 100 fl RBCs SIZES RBC indices: Mean Corpuscular Hemoglobin (MCH) Mean Corpuscular Hemoglobine (MCH): determines the Hb concentration inside RBCs and measures by picogram (28-32 Pg). - Reduced Hb concentration inside RBCs indicates hypochromic. Hypochromic Normochromic MCH less than 28 pg. MCH: 28-32 Pg. Hb conc inside RBCs (MCH) According to RBC indices (Morphology): Microcytic ,Hypochromic MCV and MCH are low. Anemia Normocytic, nornochromic MCVand MCH are normal. Macrocytic, Normochromic MCV is high, MCH is normal. According to RBC indices (Morphology): A) Microcytic , Hypochromic anemia MCV and MCH are low. Iron deficiency anemia. Thalassemia. Chronic blood loss. Microcytic , Hypochromic anemia According to RBC indices (Morphology): B) Normocytic, nornochromic anemia; - MCV and MCH are normal including: Non hemolytic anemia: Hemolytic anemia: - Acute blood loss. - Sickle cell anemia. - Anemia of chronic - Spherocytosis. diseases. - Eleptocytosis. - Anemia associated with - G6PD. cancers. According to RBC indices (Morphology): Macrocytic, normochromic anemia MCV is high with normal MCH including: - Megaloblastic anemia. - Liver disease. - Alcohol.  Anemia classification 2- According to the etiology: The anemia classified according to the etiology or causes into three large groups; Anemia Anemia Anemia due to Increase due to Decrease caused by RBCs RBC production. blood loss. destruction.  According to the etiology: - Decrease RBC production as result of deficient of some precursor substances or due to impaired the bone marrow function to produce enough RBCs: - IDA. - Megaloblatic anemia. - Anemia of cancers. - Anemia of chronic diseases.  According to the etiology… - Increase RBC destruction as result of RBC lysis rapidly (Short life span) (Hemolytic anemia). - Thalassemia. - Sickle Cell Anemia SCA. - G6PD. - Autoimmune hemolytic anemia.  According to the etiology: Blood loss: anemia as result of loss of blood from the body: Acute blood loss Chronic blood loss: Loss of large volume of Loss of small amount of blood in short time. blood for long time. Nageeb aljunidi  3- According to severity of anemia Anemia can be classified according to the severity (Hb concentration reduced) into three types: Mild anemia Moderate anemia Hb conc.: 10 g/dl Hb conc.: 8-10 g/dl Severe anemia Hb conc.: Less than 8 g/dl  Clinical laboratories Microcytic hypochromic anemia Nageeb aljunidi  Microcytic hypochromic anemia Definition A group of anemia in which the RBCs size is lower than normal (MCV is low) with low Hb concentration inside it (MCH is low). Hb concentration low. RBC count Low. PCV is low. MCV and MCH are low. Microcytic hypochromic anemia Iron Deficiency Anemia (IDA) ‫انميياء نقص احلديد‬ Nageeb aljunidi  Iron Deficiency Anemia Definition Is the common type of anemia as result of deficiency of iron concentration in the body, characterized by Microcytic and Hypochromic RBC picture. It is the most common type of anemia and more common in children, pregnant women and elderly peoples.  Source of iron There are two forms of iron found in the diet including: Heme and non heme iron: Heme iron usually in animal product foods like meat, fish and Poultry, account 10% of iron consumed. Non Haem iron usually in green vegetables, dried beans, nuts, grain product and fruits, non heme iron account 90% of iron consumed in diet.  Iron metabolism: Iron metabolism consist of : - Absorption of dietary iron from gastrointestinal tract. - Transport in the blood. - Storage in the liver and macrophages of ER organs. - Utilization in the cells. - Synthesis of iron containing protein e.g.,. Hb. - Excretion of excess iron??  Iron metabolism: - Iron ingests with the diet as ferric status, and in small intestine transform to ferrous status by reductase enzyme. Iron absorbed mostly in small intestine as Ferrous in the duodenum and jejunum, about 1-2 mg absorbed daily , enhanced by some factors like Vit c rich diets and can be inhibited by some factors like calcium, polyphones and increased gastric HCL.  Iron metabolism: Iron transported from small intestine to blood stream by ferroprotein and once transported by transferrin protein to erythropoesis. 1-2 mg of iron lost from the body each day from the skin and GIT. Iron storage as ferric status (Ferritin) or insoluble hemosiderin in many organs mainly; liver, Bone marrow, spleen. Iron metabolism  Causes of iron deficiency - Lack intake in diet: Vegan diet, limited diet and malnutrition. - Malabsorption of iron: High gastric HCL, Gastric surgery, Vitamin C deficiency. Increase requirement: Pregnancies, infants, lactation, menstruation. Blood loss: Ulcers, Prolonged menses.  Iron Deficiency Anemia Clinical pictures Fatigue, weakness and pale skin Chest pain, fast heartbeat or shortness breath. Headache. Dizziness.  Complications Mild IDA usually does not cause complications, untreated and severe IDA may cause serious complications including: - Heart problem and Renal problems. - Untreated IDA in pregnant women leads to adverse pregnancy outcomes including: premature delivery and low birth weigh babies.  IDA Diagnosis The diagnosis of IDA based on clinical pictures of the patients and laboratory investigation. - Blood and biochemical tests helpful in the diagnosis and differentiated of IDA from other anemia including; CBC. Iron study. blood film.  Diagnosis… CBC: Is non specific test help in the diagnosis of various anemia, in IDA showed: - Hb is lower than normal range. - Decrease in RBCS count. - Decrease in PCV. - MCV and MCH are reduced (Microcytic, hypochromic). - Thrombocytosis may be associated. CBC result of IDA  Diagnosis… Iron study: - Serum iron and S. ferittin are low. - TIBC is high. S. ferittin reflects the iron storage in the body and is directly proportional to the body iron storing. - TIBC test: relates to the amount of transferrin in your blood that available to attach to iron..  Blood film: Showed Microcytic, hypochromic with Anisocytosis and Pokilocytosis RBCs, pencil and target cells may seen. - Thrombocytosis: Increase platelets count may seen. No evidences of RBCs hemolysis in blood film: - No nucleated RBCs (Normoblast). - No RBCs polychromosia (Normal reticulocyte count). Normal Hb electrophoresis. Blood film in IDA  IDA Treatment - IDA is highly treatable anemia, the treat of patient with IDA based on: - Determine the cause of iron deficiency. - Change the diet style. - Iron supplement drugs - Blood transfusion (Packed cells) needed in severe IDA. Nageeb aljunidi Microcytic hypochromic anemia Thalassemia Nageeb aljunidi  Thalassemia Definition Is inherited chronic hemolytic anemia as result of gene mutation in the DNA of cells that make hemoglobin, lead to the reduced production of either the alpha or beta chains caused to rapid RBCs hemolysis. The mutations associated with thalassemia passed from parents to children.  Thalassemia It is type of microcytic, hypochromic anemia, in which the RBCs size is smaller than normal (MCV is low) and the content of Hb is lower than normal (MCH is low). In Thalassemia, the RBCs destructed rapidly and no enough oxygen reach to the tissues, the thalassemia patients usually associated with signs of hemolysis.  Types of Thalassemia - There are two types of thalassemia according to the type of globins chain which is affected by mutation (Alpha or Beta chain). Alpha thalassemia Beta thalassemia The alpha globin chain The Beta globin chain affected by mutation. affected by mutation.  Thalassemia Alpha Thalassemia Nageeb aljunidi  Alpha thalassemia Alpha thalassemia: type of thalassemia in which the alpha chain of globin affected or mutated. - Four gene are involved in making of Alph Hb chain, get two genes from each parents. The severity of alpha thalassemia depends on the number of genes mutation, the more mutation genes lead to severe anemia and complications. Nageeb aljunidi  Alpha thalassemia types - There are 4 forms of alpha thalassemia according to the number of mutated genes in alpha globin chain including: - Silent carrier: Mutation or one gene deletion. - Alpha thalassemia trait: Mutation in 2 genes. - Hb H disease: Three mutated genes. - Hydrops fetalis: All four genes mutated (Bart Hb).  Types Alpha thalassemia Silent carrier: Mutation of one gene of alpha globin chains: no symptoms of thalassemia but the patient carried the disease and can pass to the children. Alpha thalassemia trait: Two mutated genes of alpha globins chain characterized by mild sign and symptoms. Nageeb aljunidi  Alpha thalassemia Hemoglobin H disease: three mutated genes of alpha globin chain, characterized by moderate to severe signs and symptoms. hydrops fetalis: Four mutated genes of alpha globins chain, it is the severe form of alpha thalassemia, it is rare and usually result in stillbirth, (Bart Hb). Nageeb aljunidi  Thalassemia Beta Thalassemia Nageeb aljunidi  Types of Thalassemia Beta thalassemia: Type of thalassemia in which the Beta chain of globins affected or mutated. - Two gene are involved in making of Beta Hb chain. The severity of Beta thalassemia depends on the number of genes mutation, the more mutation genes lead to severe anemia and complications. Nageeb aljunidi  Beta thalassemia forms One mutated gene occurs mild sign and symptoms, this condition called Beta thalassemia minor. - Mutation of two genes of beta globins chains: the signs and symptoms will be moderate to severe, this condition called Beta thalassemia major or Cooley anemia. - Milder form also can result from two genes mutation called thalassemia intermedia.  Beta thalassemia Beta thalassemia minor. Beta thalassemia Types - Beta thalassemia major or Cooley anemia. - Thalassemia intermedia  Signs and symptoms of thalassemia The signs and symptoms of thalassemia depend on the type of thalassemia and severity of condition, including: Fatigue and weakness. Pale or yellowish skin. Jaundice and Dark urine. Slow growth. Facial bone deformities. Splenomegaly.  Complications of thalassemia Possible complications associated with moderate to severe thalassemia include: - - Iron overload: Leads to liver, heart and endocrine damage. - Infections: Patients with thalassemia have an increased risk of infection especially with spleen removed patients. -  Complications of thalassemia.. - Bone deformities: due to bone marrow expand result in abnormal bone structure especially in face and skull make the bones thin and brittle, increasing the chance of bone broken. - Enlarged spleen: Thalassemia is often accompanied by destruction of large number of RBCs causes spleen to enlarge. - Heart problems: Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia. Bone deformities  Thalassemia diagnosis Thalassemia diagnosis based on the clinical pictures, patients data and laboratory investigation. Clinical pictures and patients data including: - Family history. - Age. - Anemia with signs of hemolysis: Pale skin, Jaundice and splenomegaly.  Thalassemia diagnosis Laboratory investigation: Help in the diagnosis and differentiated between the types of thalassemia including: - CBC. - Blood film. - Reticulocyte count. - Iron study. - Hb electrophoresis. - Genetic tests.  Thalassemia diagnosis - CBC: Decreased in Hb conc. and RBCs count. - MCV and MCH are reduces (Microcytic, hypochromic), - Blood film: Aniso pokilocytosis, with microcytic, hypochromic RBCs and target cells seen. - Hemolysis evidences in blood film like; polychromosia RBCs and nucleated RBCs. Blood film of thalassemia  Thalassemia diagnosis - Reticulocyte count: increase in reticulocyte count (Reticulocytosis) associated with thalassemia and other hemolytic anemia. NR (0.5 – 2,0 %). - Iron study: showed increase in the serum iron and serum ferittin due to destruction of RBCs and iron overload in contrast to IDA which are reduced. Reticulocyte and polychromosia  Thalassemia diagnosis - Hb electrophoresis: is test for detection the presence of abnormal Hb or any change in normal Hb types percentage, it is used commonly with inherited hemolytic hemoglobinopathies hemolytic anemia in which abnormal Hb may developed or change in normal Hb percentages occur , like thalassemia and sickle cell anemia.  Thalassemia diagnosis - Hb electrophoresis is the best method for the confirm the disease and differentiated between the thalassemia types according to the types and percentage of Hb in patient blood. - In severe alpha thalassemia showed two abnormal Hb formed the Hb H and Barts Hb. - In Beta thalassemia showed disturbances in the percentages of normal Hb ( Increased in Hb A, A2 and Hb F and decreased in Hb A). Beta thalassemia Hb electrophoresis Hb electrophoresis  Thalassemia treatment - No specific treatment for thalassemia, and the management of disease based on: - Keep the Hb in constant levels. - Regular blood transfusion (Packed cells). - Reduced the iron overload in the body (Iron chelating). Nageeb aljunidi Microcytic hypochromic anemia Chronic blood loss Nageeb aljunidi  Anemia Definition Chronic blood loss is conditions in which small amount of blood loss from the body in long period of time. Chronic blood loss is the main causes of IDA in adults. Nageeb aljunidi  Anemia Chronic blood is type of anemia characterized with microcytic hypochromic anaemia and can develops IDA pictures. Chronic blood loss leads to consume large amount of iron in the body to compensate the blood loss by production of new RBCs lead to iron deficiency. Nageeb aljunidi  Chronic blood loss Main causes of chronic blood loss: - Ulcers: especially gastric and duodenal ulcers. - Piles and rectal bleeding. - Irregular and prolonged menstruation. - Prolonged and recurrent epistaxis. - Colon polyp. Nageeb aljunidi  Anemia Diagnosis of chronic blood loss: - By clinical complains of the patients - Lab investigation like faecal occult blood test (FOB) for detect the GIT bleeding. - Endoscope and CT scan for detect the ulcers. Nageeb aljunidi  Macrocytic anemia A group of anemia characterized with enlarged RBC with increase in MCV more than the normal range (MVC: More than 100 fl). Nageeb aljunidi  Macrocytic, normochromic anemia: Macrocytic anemia divided according to the cause into two types: - Non Megaloblastic: Megaloblastic anemia - Liver disease. - Alcohol. Nageeb aljunidi Macrocytic, normochromic anemia: Megaloblastic anemia Nageeb aljunidi  Megaloblastic anemia Definition Megaloblastic anemia is a form of macrocytic anemia, it is blood disorder occurs when the bone marrow produces stem cells that make abnormally large cells called megaloblast. Megaloblastic anemia is a type of vitamin deficiency as result of Vitamin B12 deficiency.  Megaloblastic anemia Vit B12 (Cobalamin): Vit B12 plays an essential role in red blood cells formation, cell metabolism, nerve function and production of DNA. Deficiency in Vit B12 leads to develops anemia characterized with large RBCs size in blood and bone marrow.  Vit B12 sources: Vit B12 is commonly animal product sources include: - Red meat, Animal liver and kidney. - Poultry and eggs. - Fish and dairy product (Milk and cheese). - The body does not make vit B12. - The recommended daily amount of Vit B12 for adult about 2.5 mcg, most people get it easily from the diet. Nageeb aljunidi  Megaloblastic anemia Vit B12 metabolism: - Vit B12 ingested in complex form with food. - Vit B12 release from the food in the stomach by gastiric acid and pepsin. -Free Vit B12 is sensitive to gastric acidity, Bind to haptocorrin protein (HC) which found in saliva and gastric fluid.  Megaloblastic anemia Vit B12 metabolism: - - Vit B12 release from HC in intestine by pancreatic protease and then bound to Intrinsic factor (IF). - The IF- vit B12 absorbed in ileum and the IF degrade in enterocyte, Vit B12 reach to the blood. - In blood the Vit B12 bounded to transcobalamine to different cells. - Excess Vit B12 stored in the liver. - Vit B12 metabolism  Megaloblastic anemia Vit B12 deficiency causes : - - Inadequate intake in diet: Vegetarian. - Malabsorption: Gastrectomy, Deficiency of IF and ileal disease. - Increase requirement: Pregnancies and lactation. - Defective transport: Transcoabalamin deficiency. Vit B12 deficiency causes :  Megaloblastic anemia Megaloblastic anemia signs and symptoms : - Abnormal Paleness of skin. - Decrease appetite and weakness. - Irritability. - Fatigue (Lack of energy or easily tiring). - Difficulty walking. - Numbness or tingling in hands and foot.  Megaloblastic anemia Megaloblastic anemia complications: - Untreated or chronic megaloblastic anemia may caused permenat neurological damage due to neurodegeneration include: - Gait ataxia. - Memory loss. - Peripheral neuropathy. - Psychiatric disturbances.  Megaloblastic anemia Diagnosis: - Megalobalstic anemia diagnosis based on clinical pictures and laboratory investigation: - CBC. - Blood film. - Vit B12 measurement. - LDH assay. - Bone marrow (Not routinely test).  Megaloblastic anemia Diagnosis.. - CBC: Showed Hb conc low with decreased RBCs count and PCV. - MCV is high (Macrocytic cells). - Leucopenia and thrmbocytopenia may occur in severe form of megaloblastic anemia (Pancytopenia picture).  Megaloblastic anemia Diagnosis: - Blood film: Maco ovalocytes RBC and tear drops RBCs may seen. - Hypersegmented neutrophils (Neutrophils with segmented lobes more than 5). - Neutrophils hypersegmentation is one of the earliest, most sensitive and specific signs of megaloblastic anemia (Mainly caused by hypovitaminosis of Vit B12 and folic acid.  Blood film Macoovalocytosis, Hypersegmented neutrophil  Megaloblastic anemia diagnosis: - Vit B12 measurement: Use to measures the amount of Vit B12 in the patient serum, in megaloblastic anemia the Vit B12 level is reduced. - Vit B12 normal range (200 – 900 pcg / ml). - Lactate Dehydrogenase (LDH): LDH present in high concentration in meglaoblast, so Increased level of LDH in megaloblastic anemia is due to the intramedullary destruction of megaloblasts cells. Macrocytic, normochromic anemia: Pernicious anemia  Pernicious anemia Definition Is a type of megaloblastic anemia as result of lack of IF in stomach secretion leads to inability to Vit 12 absorption. IF is glycoprotein is a glycoprotein produced by the parietal cells of human, it is necessary for vit B12 absorption in the ileum.  Pernicious anemia Causes Some causes may leads to lack of IF in gastric secretion including: - Surgical gastrictomy. - Autoimmune reaction: auto antibodies attack the parietal cell leads to prevent release of IF.  Pernicious anemia Diagnosis - The same picture of megaloblastic anemia, Macrocytic, normochromic cells (MCV is high). - Low vit B 12 level in the serum. - Schilling test: performed to evaluate vit B12 absorption usually used for pernicious anemia diagnosis. Schilling test Anemia END Nageeb aljunidi