Anemia Part 2, Dr. Nageeb aljunidi 2024 PDF

Clinical laboratories Anemia Nageeb aljunidi Classification of anemia according to RBC indices (Morphology) Microcytic ,Hypochromic (MCV and MCH are low). Anemia: Normocytic, nornochromic...

Clinical laboratories Anemia Nageeb aljunidi Classification of anemia 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).  Anemia Noromocytic, Normochromic anemia Nageeb aljunidi  Noromocytic, Normochromic anemia Definition A group of anemia in which the RBCs size is normal (MCV is normal) with normal Hb concentration inside it (MCH is normal). Hb concentration low. RBC count Low. PCV is low. MCV and MCH are normal.  According to RBC indices (Morphology): Normocytic, nornochromic anemia including: Non hemolytic anemia: Hemolytic anemia: - Acute blood loss. - Sickle cell anemia. - Anemia of chronic - Spherocytosis. diseases. - Eleptocytosis. - Anemia associated with - G6PD deficiency. cancers.  Hemolytic anemia - Anemia characterized by increase RBCs destruction in circulation as result of hereditary causes like in hemoglobin mutations and defect anemia (Haemoglobinopathies), cell membrane synthesis defect or decrease in enzymes of RBCs. - Some hemolytic anemia are acquired as result of autoimmune causes, Drugs or infections. Nageeb aljunidi  Hemolytic anemia: Hereditary haemolytic anemia according to causes; Hemolytic anemia Hemolytic anemia associated with Hb defect associated with RBC (Haemoglobinopathies). enzyme deficiency. Hemolytic anemia associated with cell membrane synthesis defect. Nageeb aljunidi  Hereditary haemolytic anemia Hemolytic anemia Haemoglobinopathies associated with RBCs - Thalassemia. enzymes deficiency: - Sickle cell anemia. - G6PD deficiency. Hemolytic anemia due to RBCs membrane synthesis defect; - Hereditary Elliptocytosis. - Hereditary Spherocytosis.  Noromocytic, Normochromic anemia Haemoglobinopathies Haemolytic anemia Sickle cell anemia (SCA) ‫الانميياء املنجلية‬  Sickle cell anemia Definition A group of hereditary hemolytic anemia, with normocytic, normochromic RBCs picture in which the RBCs size is normal with normal Hb concentration inside it. Hb concentration, RBC count and PCV are low, MCV and MCH are normal.  Sickle cell anemia Sickle cell disease occurs when a person inherits two abnormal copies of B- globin chain that make Hb, one from each parent, leads to form abnormal hemoglobin called sickle Hb (Hb S). Sickle Hb (Hb S) is a hemoglobin variant in which the sixth amino acid on B globin chain the glutamic acid is replaced by valine.  Sickle cell anemia - Hb S under the deoxygenated condition polymerized to long fibers leading to formation of sickle-shaped red blood cell which are thin and rigid causing vaso- occlusive, blocking blood flow and multi organ damage. Vaso occlusive in SCA  Types of Sickle cells anemia - There are two forms of sickle cell anemia according to the number of B globin chain genes mutated (One or both genes of B globin chain affected); Sickle cell trait Sickle cell disease (SCD) (SCT) or carriers or Sickle Cell Anemia (Hb AS). (SCA) (Hb SS).  Types of Sickle cells anemia Sickle cell trait occurs when the person inherited one defect copy gene (Single abnormal gene) of globin chain, SCT usually have no symptoms, such peoples refer to carriers and is said to have sickle cell trait. Some persons with SCT may develop symptoms of pain crises, Hb electrophoresis showed mix of Hb A and abnormal Hb S (Hb AS). SCT  Types of Sickle cells anemia Sickle cell anemia or Sickle Cell Disease occurs when the person inherited two defect copy genes of globin chain, SCA usually have symptoms of anemia with hemolysis and develops different complications and organs damage. In SCA, Hb electrophoresis may showed absence of Hb A, and the predominant hemoglobin is the abnormal Hb S (Hb SS). SCT and SCA  Signs and symptoms SCD Patients with SCD start to have signs of the disease during the first year of life, usually around the 5 and 6 months of age, early symptoms of SCD may include; - Painful swelling of the hand and feet (Joint crises). - Fatigue, weakness and dizziness. - A yellowish color of skin (Jaundice). Nageeb aljunidi  SCD complications: The complication of SCD as result of anemia and the vaso occlusive by sickle cells that block the small capillaries of organs, they may include: - Increase risk of severe bacterial infections. - Stroke: narrowing of brain blood vessels. - Severe chronic pain (Sickle cell crisis). - Organ damage including: heart, lung, kidney, liver, gall bladder, BM and eyes. SCA pathogenesis  SCD diagnosis The diagnosis of SCA based on clinical data and laboratory investigations to diagnose and confirmed the disease that include; - Family history. - Clinical pictures. - Blood tests. - Genetic test.  SCD diagnosis.. - Family history: The present of family history of inherited hemolytic anemia or history for the SCA or SCT parents. - Clinical pictures: Anemia with clinical signs of hemolysis like (jaundice and splenomegaly). - Chronic pain crisis. - Recurrent bacterial infections. - Swelling with pain of hands and feet.  SCD diagnosis… Laboratory investigation: Some blood tests helpful in the diagnosis of SCA and differentiate SCA from other hemolytic anemia include; - CBC: Showed anemia with usually normocytic, normochromic RBCs pictures ( Hb low with MCV and MCH are normal). Nageeb aljunidi  Laboratory investigation Blood film: Showed aniso pokilocytosis, with target cells and sickle cells may be seen. - Evidences of hemolysis on blood film may be seen include: - Nucleated RBC (Normoblat). - Polychromatic RBCs (RBCs Polychromosia). Reticulocyte count: SCA usually associated with reticulocytosis as result of hyperactivity of erythropoesis in bone marrow. SCA blood film  Laboratory investigation.. Sickling test: Test used to confirm the SCA, it gives positive result with SCA as well as with SCT, so the sickling test usually does not differentiated between the SCA from SCT. In sickling test the patient's RBCs mixed with deoxygnated reagent of Sodium metabisulphite, that induce the form of sickle shaped RBCs. A)Negative sickling test , B)positive sickling test Positive sickling test  Laboratory investigation - Hb electrophoresis: the best test used to confirm the disease and to differentiated between SCA (Hb SS) from SCT (Hb AS). - In SCA usually absent of Hb A and replaced by abnormal Hb S (Hb SS). - In SCT reduced the percentage of Hb A with the presence of Hb S (Hb AS). Hemoglobin electrophoresis in sickle cells Hb electrophoresis  Laboratory investigation… Genetic test: is a rare test used to detect the type of sickle cells patient, if inherited one gene copy (SCT) or two gene copies (SCA), it helps confirm the SCD if result from blood tests are not clear. SCA can diagnose before a baby is born, test uses a sample of amniotic fluid or tissue taken from placenta.  Treatment of SCA The treatment in SCA can help relieve symptoms and lessen complications include; Hydroxyurea: drug to reduce sickling of red blood cells and prevent the serious symptoms of disease, it can be used for adults and children as young a 9 months old, but not safe in pregnancy. Nageeb aljunidi  Treatment of SCA.. - - Pain relievers: for acute and chronic pain (Sickle crisis). - Antibiotics: to prevent or reduced the bacterial infections in younger children. - Iron chelation drugs. - Folic acid supplement. - Blood transfusion: For severe anemia.  Haemolytic anemia Enzyme deficiency hemolytic anemia Glucose 6 Phosphate Dehydrogenase Deficiency (G6PD deficiency). Nageeb aljunidi  G6PD deficiency Definition Is a genetic hemolytic disorder that affects the RBCs due to deficiency of G6PD enzyme, make the RBCs destructed faster than normal RBCs. G6PD occurs as result of mutation in G6PD genes that making the G6PD enzyme.  G6PD G6PD is important enzyme that regulates various biochemical reaction in the body, involved in the normal processing of carbohydrates and also protect RBCs from the damage and keeping RBCs healthy. mutation in G6PD genes causes reduce G6PD or alter its structure leads to reduced its roles and RBCs more susceptible to destruction.  G6PD deficiency G6PD deficiency is genetic condition passed from one or two parents to their child. The defective gene that causes the deficiency located on X chromosome (X linked), which is one of two sex chromosomes. Men have one X chromosome, while women have two X chromosomes. In male alter in one altered gene copy enough to cause the disease.  G6PD deficiency Females are usually affected if there is a mutation present in both copies of the gene, though in some cases, females with one G6PD mutation can also experience symptoms. Males are more affected than females with G6PD. G6PD deficiency varies from mild to moderate and severe deficiency.  G6PD deficiency trigger factors - In people with G6PD deficiency, hemolytic anemia can occur after induced by some trigger factors that induced the rapid and sudden RBCs destruction that include: - Eating of some foods like fava beans or certain legumes. - Some drugs and medications. - Bacterial or viral infections.  G6PD signs and symptoms - Most people with G6PD deficiency usually do not experience any symptoms (Asymptomatic), some may develop symptoms of hemolytic anemia when they exposed to triggers factors. - The common pathogenesis in G6PD deficiency is RBCs destruction and signs associated with anemia and hemolysis in severe cases like, (Jaundice and splenomegaly).  G6PD signs and symptoms.. - Common signs and symptoms of G6PD: - Sudden fall of Hb conc and anemia. - Rapid heart rate and breath shortness. - Fever, fatigue and dizziness. - Paleness, jaundice or yellowish skin. - Dark urine.  Diagnosis of G6PD deficiency - G6PD deficiency diagnosis based on clinical pictures and laboratory investigation include: - Family history. - Rapid onset of anemia and hemolysis. - Hemolysis signs (Jaundice). - Symptoms after eat beans, get drugs or infections. Nageeb aljunidi  Diagnosis of G6PD deficiency.. - Laboratory diagnosis include: - CBC. - Blood film. - Reticulocyte count. - G6PD assay. Nageeb aljunidi  Laboratory diagnosis of G6PD… - CBC: Showed decrease Hb concentration, RBC count and PCV. - Blood film: Showed Aniso pokilocytosis, target cells. - Hemolysis evidences in blood film include: - Nucleated RBCs (Normoblat). - Blister cells. - Spherocytosis. - Nageeb aljunidi - G6PD deficiency  Laboratory diagnosis Reticulocyte count: Increase reticulocyte count (Reticulocytosis) associated with G6PD deficiency anemia like other hemolytic anemia, reticulocytosis indicates hyperactivity of erythropoesis in bone marrow. - Reticulocyte count normal range (0.5- 2.0%). - Nageeb aljunidi  Laboratory diagnosis… - G6PD enzyme assay: Simple blood test used to determine the G6PD level in patients. - it is the best test used to diagnosed the G6PD deficiency. Nageeb aljunidi  Treatment of G6PD deficiency - Treatment of G6PD deficiency consist of: - Remove the triggers that causing symptoms. - Avoiding the food that trigger the disease. - If the infection triggers by infection, the infection is treated. - If medication trigger the disease, this drug must be stooped. - Blood transfusion if needed.  Haemolytic anemia RBCs Membrane defect hemolytic anemia Hereditary elliptocytosis (HE).  Hereditary elliptocytosis Definition A group of inherited red blood cells membrane disorder that are characterized by elliptical or cigar like shape RBCs in peripheral blood and shortened RBCs survival. HE is congenital hemolytic anemia as result of mutation in cytoskeleton spectrins, glycoprotein C of RBCs cell membrane.  Hereditary elliptocytosis The cytoskeleton protein responsible for maintains the biconcave shape of RBCs, the mode of inheritance in HE is autosomal dominant. The elliptocytes RBCs are not deformable as normal RBCs and are eventually trapped and removed by spleen, this manifests as hemolytic anemia. Nageeb aljunidi  Hereditary elliptocytosis The majority of patients with HE are asymptomatic and do not need for treatment, in clinical cases with symptoms, anemia and hemolytic signs are the main manifestations. In chronic hemolysis associated with HE, splenomegaly, gallbladder stones and lung ulcer may occur. Nageeb aljunidi  Hereditary elliptocytosis diagnosis Diagnosis of HE based on clinical data and laboratory investigations. - Family history. - Signs of anemia with hemolysis. In blood film the presence of at least 60% elliptocytes RBCs on peripheral blood, suggest the disease. Nageeb aljunidi Elliptocytosis in blood film  Hereditary elliptocytosis diagnosis - CBC: showed reduced in Hb, RBCs count and PCV. - MCV and MCH usually normal. - Reticulocyte count: HE associated with reticulocytosis in severe and chronic hemolysis. - Bilirubinemia. - LDH may be high. Nageeb aljunidi  Hereditary elliptocytosis The confirmatory test for the presence of HE is based on molecular genetic testing for the presence of mutations in the specific protein molecules of RBCs membrane. In severe and chronic cases of HE the management of the patients based on: - Blood transfusion. - Splenectomy.  Haemolytic anemia RBCs Membrane defect hemolytic anemia Hereditary Spherocytosis (HS).  Hereditary Spherocytosis Definition Is an inherited hemolyic blood disorder characterized by small round RBCs like a sphere (Spherocytes) in peripheral blood and shortened RBCs survival. Spherocytes RBCs are more fragile than normal RBCs, they breakdown faster and more easily than normal caused hemolytic anemia.  Hereditary Spherocytosis HS as result of defect in RBCs cell membrane proteins mutation, leads to weakness, less resistance and easily rupture RBCs. - Symptoms of HS can vary from mild to moderate anemia and start at any age, when children with hereditary spherocytosis have fever the anemia can be worse and severe.  Signs and symptoms of HS - Pale skin. - Tiredness. - Fast heartbeat and shortness of breath. - Growth problems. - In moderate cases the signs of hemolysis may occur like; - jaundice. - splenomegaly.  Hereditary Spherocytosis diagnosis - Diagnosis of HS based on clinical data and laboratory investigations include: - Family history. - Signs and symptoms. - Blood tests. - CBC: Reduced in Hb con, RBCs count and PCV. - MCV is normal with vary in MCH. - Blood film: Normocytic RBCs with small spherocytes cells. Spherocytes in blood film  Hereditary Spherocytosis diagnosis - Reticulocyte count: Increase reticulocytes count associated with hereditary spherocytosis (Reticulocytosis). - Bilirubinemia: Increase total and indirect bilirubin. Osmotic fragility test: is the gold standard test for diagnosis of HS, Spherocytes are fragile cells easily rupture in a hypotonic solution of NaCl than normal RBCs.  HS Treatment - Some people with mild anemia not need for treatment, the treatment of HS based on the symptoms, they may include: - Folic acid supplement. - Splenectomy in severe cases. - Blood transfusion in severe anemia and hemolysis. - Phototherapy UV light for jaundice babies. Nageeb aljunidi Normocytic, normochromic anemia Aplastic anemia Nageeb aljunidi  Aplastic anemia Is a condition in which the bone marrow stops to produce enough new blood cells, leads to develops of anemia symptoms with more susceptible to infections and uncontrolled bleeding. It is a rare and serious condition, can develop at any age and can occur suddenly, or comes in slowly and worsen over time. Nageeb aljunidi  Aplastic anemia Aplastic anemia may be mild or severe symptoms and can be short lived or it can be become chronic and even fatal. Stem cells in the bone marrow produced blood cells (RBCs, WBCs and Platelets) are damaged leads to empty (Aplastic) bone marrow or contain few blood cells (Hypoplasia).  Aplastic anemia causes The most common cause of aplastic anemia is attack the bone marrow by immune system leads to stem cells damage and injury, other factors may caused aplastic anemia include: - Radiation and chemotherapy treatment. - Exposure to toxic chemicals. - Certain drugs. - A viral infections. - Unknown factors (Idiopathic aplastic anemia).  Aplastic anemia symptoms Anemia related signs include: - Fatigue. - Shortness of breath and rapid heart beat. - Pale skin. - Dizziness and headache. - Frequent and prolonged infections. - Fever. - Unexplained and easy bruising. -Nose and gum bleeding. - Prolonged bleeding from cut.  Aplastic anemia diagnosis - Aplastic anemia diagnosis based on clinical symptoms and laboratory investigation: - Clinically; anemia with tendency to recurrent infections and bleeding. Laboratory tests: - CBC: Anemia with normal MCH and MCH. - Pancytopenia picture: Reduced in all blood cells count. - Bone marrow: showed hypoplasia or aplasia.  Aplastic anemia treatment - Aplastic anemia treated with: - Medications. - Blood transfusion. - Stem cells or bone marrow transplantation. - Avoiding exposure to toxic chemicals substances and radiation may low the risk of disease. Nageeb aljunidi Anemia END Nageeb aljunidi