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ANEMIAS Dr. Aamer Aleem Consultant Hematologist Associate Prof. of Medicine KKUH & College of Medicine Riyadh.

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Presentation on theme: "ANEMIAS Dr. Aamer Aleem Consultant Hematologist Associate Prof. of Medicine KKUH & College of Medicine Riyadh."— Presentation transcript:

1 ANEMIAS Dr. Aamer Aleem Consultant Hematologist Associate Prof. of Medicine KKUH & College of Medicine Riyadh

2 Anemia Anemia is present when a patient has a reduced amount of hemoglobin per unit volume of blood when compared with the correct reference population for that patient. Anemia is present when a patient has a reduced amount of hemoglobin per unit volume of blood when compared with the correct reference population for that patient. Males Hb-13-18 Males Hb-13-18 Females Hb 12-17 Females Hb 12-17

3 ANEMIA Single cell line(RBC) problem Single cell line(RBC) problem Multiple cell line problem Multiple cell line problem (RBC,WBC,Platelet) (RBC,WBC,Platelet) -Bone marrow suppression -Bone marrow suppression -immunologic disorders -immunologic disorders -peripheral destruction/sequestration -peripheral destruction/sequestration

4 Anemia Anemia is generally defined as a hematocrit Anemia is generally defined as a hematocrit <40% (hemoglobin <13.0 g/dL) in men or <40% (hemoglobin <13.0 g/dL) in men or <37% (hemoglobin <12.0 g/dL) in women. <37% (hemoglobin <12.0 g/dL) in women. (WHO definition) (WHO definition) Red blood cell (RBC) indices, which include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), the mean corpuscular hemoglobin content (MCHC), and the red-cell distribution width (RDW) index, are further used to define types of anemia. Red blood cell (RBC) indices, which include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), the mean corpuscular hemoglobin content (MCHC), and the red-cell distribution width (RDW) index, are further used to define types of anemia.

5 Anemia Despite having a set of peculiar symptoms and signs, anemia is not a disease per se, but a syndrome, as it may arise from an extensive list of causes. Despite having a set of peculiar symptoms and signs, anemia is not a disease per se, but a syndrome, as it may arise from an extensive list of causes. It is the chronic syndrome of highest prevalence in clinical medicine. It is the chronic syndrome of highest prevalence in clinical medicine.

6 Anemia Etiology Based on Hb, red cell indices, retic count and red cell morphology Based on Hb, red cell indices, retic count and red cell morphology (1) Inadequate response (1) Inadequate response A. Hypochromic microcyctic A. Hypochromic microcyctic B. Normochromic Normocytic B. Normochromic Normocytic C. Macrocytic C. Macrocytic (2)Adequate response (2)Adequate response R/O blood loss---Includes Hemolytic R/O blood loss---Includes Hemolytic disorders disorders

7 Anemia-symptoms What are the symptoms of Anemia ? What are the symptoms of Anemia ? General malaise, weakness, fatigue, breathlessness on exertion, palpitations, angina. General malaise, weakness, fatigue, breathlessness on exertion, palpitations, angina. Desire to eat sand and clay. Desire to eat sand and clay. Menorrhagia common in women. Menorrhagia common in women.

8 Symptoms of Anemia The central nervous system, the heart and the muscle mass are the most affected organs, since they are the ones that most need oxygen for their functions. The central nervous system, the heart and the muscle mass are the most affected organs, since they are the ones that most need oxygen for their functions. The symptoms increase with physical activity, as this consumes oxygen. The symptoms increase with physical activity, as this consumes oxygen. With hemoglobin between 9 and 11 g/dL there's irritability, headache and psychic asthenia; in the elder fatigability is observed, and angina may occur. With hemoglobin between 9 and 11 g/dL there's irritability, headache and psychic asthenia; in the elder fatigability is observed, and angina may occur. With hemoglobin between 6 and 9 g/dL there's tachycardia, dyspnea and fatigue upon the slightest effort. With hemoglobin between 6 and 9 g/dL there's tachycardia, dyspnea and fatigue upon the slightest effort. With hemoglobin below 6 g/dL symptoms are present even in sedentary activities, and when below 3.5 g/dL heart failure is impending and any activity is unfeasible. With hemoglobin below 6 g/dL symptoms are present even in sedentary activities, and when below 3.5 g/dL heart failure is impending and any activity is unfeasible.

9 COMPLETE BLOOD COUNT Hb Conc (g/dl) Hb Conc (g/dl) Hematocrit (PCV) Hematocrit (PCV) MCV (fl) MCV (fl) MCH (pg) MCH (pg) RDW(measure of red cell size variability) RDW(measure of red cell size variability) RBC Count (…x10 9 /L ) RBC Count (…x10 9 /L ) WbC Count (…x10 9 /L ) WbC Count (…x10 9 /L ) Platelet Count (…x10 9 /L) Platelet Count (…x10 9 /L) (Reticulocyte Count) ( % ) (Reticulocyte Count) ( % )

10 Red Cell Indices MCV defines the size of the red blood cells and is expressed as femtoliters (10 −15 ; fl) or as cubic microns (μm 3 ). The normal values for MCV are 87 ± 7 fl. MCV defines the size of the red blood cells and is expressed as femtoliters (10 −15 ; fl) or as cubic microns (μm 3 ). The normal values for MCV are 87 ± 7 fl. MCH quantifies the amount of hemoglobin per red blood cell. The normal values for MCH are 29 ± 2 picograms (pg) per cell. MCH quantifies the amount of hemoglobin per red blood cell. The normal values for MCH are 29 ± 2 picograms (pg) per cell. MCHC indicates the amount of hemoglobin per unit volume. In contrast to MCH, MCHC correlates the hemoglobin content with the volume of the cell. It is expressed as g/dl of red blood cells or as a percentage value. The normal values for MCHC are 34 ± 2 g/dl. MCHC indicates the amount of hemoglobin per unit volume. In contrast to MCH, MCHC correlates the hemoglobin content with the volume of the cell. It is expressed as g/dl of red blood cells or as a percentage value. The normal values for MCHC are 34 ± 2 g/dl.

11 Red Cell Indices How to calculate red cell indices

12 Glossary of Useful Blood Count Descriptors Anisocytosis: red cells of unequal size. Reflected in increased RDW (Red cell Distribution Width.) Dimorphic Blood Film: two populations of red cells - one microcytic and the other normocytic. Seen in treated or transfused iron deficiency, and sideroblastic anemia Howell-Jolly bodies: round nuclear remnants within the red cells. Indicate splenectomy or hyposplenismMacrocytosis: large red cells Erythroblast: any nucleated red cell precursor Hypersegmented neutrophils: a neutrophil with six or more lobes. Usually (but not inevitably) means vitamin B12 or folate deficiency Anisocytosis: red cells of unequal size. Reflected in increased RDW (Red cell Distribution Width.) Dimorphic Blood Film: two populations of red cells - one microcytic and the other normocytic. Seen in treated or transfused iron deficiency, and sideroblastic anemia Howell-Jolly bodies: round nuclear remnants within the red cells. Indicate splenectomy or hyposplenismMacrocytosis: large red cells Erythroblast: any nucleated red cell precursor Hypersegmented neutrophils: a neutrophil with six or more lobes. Usually (but not inevitably) means vitamin B12 or folate deficiencyAnisocytosis: Dimorphic Blood Film Howell-Jolly bodiesMacrocytosisErythroblastHypersegmented neutrophilsAnisocytosis: Dimorphic Blood Film Howell-Jolly bodiesMacrocytosisErythroblastHypersegmented neutrophils

13 Glossary of Useful Blood Count Descriptors Hypochromia: pale red cells. Always accompanied by microcytosis Leukoerythroblastic: the presence of erythroblasts and myelocytes (which are precursors of mature cells) in the blood. Often indicates marrow infiltration eg by secondary cancer or fibrosis Hypochromia: pale red cells. Always accompanied by microcytosis Leukoerythroblastic: the presence of erythroblasts and myelocytes (which are precursors of mature cells) in the blood. Often indicates marrow infiltration eg by secondary cancer or fibrosisHypochromiaLeukoerythroblasticHypochromiaLeukoerythroblastic Microangiopathy: indicates mechanical damage to red cells with red cell fragments on the blood filmMicrocytosis: small red cells Poikilocytosis: a traditional term for red cells of unequal shape Microangiopathy: indicates mechanical damage to red cells with red cell fragments on the blood filmMicrocytosis: small red cells Poikilocytosis: a traditional term for red cells of unequal shapeMicroangiopathyMicrocytosisPoikilocytosisMicroangiopathyMicrocytosisPoikilocytosis Polychromasia: grey coloured red cells on film, indicating presence of increased reticulocytes Polychromasia: grey coloured red cells on film, indicating presence of increased reticulocytes Reticulocyte: an erythrocyte newly released from the bone marrow Reticulocyte: an erythrocyte newly released from the bone marrow

14 Glossary of Useful Blood Count Descriptors Rouleaux: red cells in stacks, as coins. Indicates high ESR, eg infection, myeloma, cancer, collagen disease, TB etc. Rouleaux: red cells in stacks, as coins. Indicates high ESR, eg infection, myeloma, cancer, collagen disease, TB etc. Rouleaux Schistocyte: a red cell which has undergone mechanical damage - synonymous with red cell fragment Schistocyte: a red cell which has undergone mechanical damage - synonymous with red cell fragment Schistocyte Spherocyte: a spherical red cell due to disproportionate membrane loss. Either inherited, or acquired from (usually) immune causes Spherocyte: a spherical red cell due to disproportionate membrane loss. Either inherited, or acquired from (usually) immune causes Spherocyte Sickle cell: a crescent-shaped red cell characteristic of Sickle Cell Anemia Sickle cell: a crescent-shaped red cell characteristic of Sickle Cell Anemia Sickle cell Sickle cell Target cell: red cell with central area of Hb giving the appearance of a target. Seen in many conditions, including IDA, hemoglobinopathy and liver disease Target cell: red cell with central area of Hb giving the appearance of a target. Seen in many conditions, including IDA, hemoglobinopathy and liver disease Target cell Target cell

15 Rouleaux Rouleaux (singular is rouleau) are stacks of red blood cells. They occur when the plasma protein concentration is high, and because of them the ESR (erythrocyte sedimentation rate) is also increased. Conditions which do this include infections, inflammatory and connective tissue disorders, and cancers. In this case, the diagnosis is probably multiple myeloma, as a plasma cell can be seen on the film.

16 Erythroblasts & other BM cells Erythroblasts are the precursor cells of erythrocytes. They contain nuclei, and in adults are only found in the bone marrow under normal circumstances. Their presence in the blood may indicate either marrow 'stress', as in hypoxia, severe sepsis, or hemolysis, for example, or some fundamental bone marrow pathology such as replacement by secondary cancer.

17 Anisocytosis Anisocytosis means that the red cells are of unequal size. It is a feature of many anemias, and other blood conditions, and does not have much diagnostic value. The 'red cell distribution width' (RDW) is a quantitative measure of the degree of anisocytosis. The RDW is useful in the differential diagnosis of microcytic anemia. Most cases of iron deficiency have a raised RDW, and most cases of thalassemia trait have a normal RDW.

18 Dimorphic Red Blood Cells There are two populations of red cells present. One is normocytic, and the other is microcytic. This occurs either because an iron-deficient patient has been transfused or treated with iron, or in the Sideroblastic Anemias.

19 Anemia-diagnosis How can we diagnose Anemia ? How can we diagnose Anemia ? Blood tests to detect the various components of blood is carried out for proper diagnosis. Blood tests to detect the various components of blood is carried out for proper diagnosis. Red blood cell count may be normal or decreased. Red blood cell count may be normal or decreased. Peripheral blood smear shows pale small cells. Peripheral blood smear shows pale small cells. White blood cell count normal or decreased White blood cell count normal or decreased

20 Classification of anemia Anemia can be either acute or chronic. Anemia can be either acute or chronic. In acute anemia (sudden loss of blood), the lack of blood volume in the circulatory system is more important than the deficiency of hemoglobin. A loss up to 10% of blood volume, as that taking place upon blood donation, is well tolerated. Losses between 10 and 20% cause postural hypotension, dizziness and faint. In losses above 20%, there's tachycardia, cold extremities, extreme paleness and hypotension, followed by shock; should the loss surmount 30%, without immediate replacement of intravenous fluids, the shock rapidly becomes irreversible and fatal. In acute anemia (sudden loss of blood), the lack of blood volume in the circulatory system is more important than the deficiency of hemoglobin. A loss up to 10% of blood volume, as that taking place upon blood donation, is well tolerated. Losses between 10 and 20% cause postural hypotension, dizziness and faint. In losses above 20%, there's tachycardia, cold extremities, extreme paleness and hypotension, followed by shock; should the loss surmount 30%, without immediate replacement of intravenous fluids, the shock rapidly becomes irreversible and fatal. In chronic anemia, there's no decrease in blood volume, which is compensated by an increase in plasma volume. In chronic anemia, there's no decrease in blood volume, which is compensated by an increase in plasma volume.

21 Classification of anemia Based on MCV Microcytic anemia Microcytic anemia Normocytic anemia Normocytic anemia Macrocytic anemai Macrocytic anemai

22 Classification of anemia Based on underlying process Blood loss or def. of nutrients Blood loss or def. of nutrients Hemolysis Hemolysis Failure of production Failure of production

23 A diagnostic scheme for anemias Determine the MCV Determine the MCV The most useful initial approach to anemia is based on red cell size. The Mean Corpuscular Volume (MCV) represents a direct measurement of red cell size. When this is reduced, the anemia is referred to as microcytic. It is macrocytic when the MCV is increased, and normocytic when the MCV is normal. The most useful initial approach to anemia is based on red cell size. The Mean Corpuscular Volume (MCV) represents a direct measurement of red cell size. When this is reduced, the anemia is referred to as microcytic. It is macrocytic when the MCV is increased, and normocytic when the MCV is normal.

24 Anemia-classification One way to classify anemia is by RBC size (i.e., MCV), as microcytic, macrocytic, or normocytic. For the microcytic anemias, the etiologic possibilities are iron deficiency, thalassemia, sideroblastic anemia, and the anemias of chronic disease. Severe microcytic anemia (MCV 125 fL) is almost always megaloblastic. In some rare cases, macrocytic anemia is related to the myelodysplastic syndromes prior to or after chemotherapy. One way to classify anemia is by RBC size (i.e., MCV), as microcytic, macrocytic, or normocytic. For the microcytic anemias, the etiologic possibilities are iron deficiency, thalassemia, sideroblastic anemia, and the anemias of chronic disease. Severe microcytic anemia (MCV 125 fL) is almost always megaloblastic. In some rare cases, macrocytic anemia is related to the myelodysplastic syndromes prior to or after chemotherapy.thalassemia The causes of normocytic anemias include aplastic anemia, bone-marrow replacement, pure red-cell aplasia, anemias of chronic disease, hemolytic anemia, and recent blood loss. A number of anemias have a genetic etiology. Examples of such inherited disorders include hereditary spherocytosis and sickle-cell (SC) anemia The causes of normocytic anemias include aplastic anemia, bone-marrow replacement, pure red-cell aplasia, anemias of chronic disease, hemolytic anemia, and recent blood loss. A number of anemias have a genetic etiology. Examples of such inherited disorders include hereditary spherocytosis and sickle-cell (SC) anemiasickle-cell (SC) anemiasickle-cell (SC) anemia

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26 Hypochromic Microcytic Anemia D/D Microcytic anemias the etiologic possibilities are the etiologic possibilities are Iron deficiency Iron deficiency Thalassemia Thalassemia Sideroblastic anemia Sideroblastic anemia Anemias of chronic disease. Anemias of chronic disease. Severe microcytic anemia (MCV <70 fL) is Severe microcytic anemia (MCV <70 fL) is caused mainly by iron deficiency or thalassemia. caused mainly by iron deficiency or thalassemia.

27 Normochromic Normocytic Anemia D/D Chronic inflammatory disease— (1)infection (2)collagen vascular disease (3)inflammatory bowel disease Chronic inflammatory disease— (1)infection (2)collagen vascular disease (3)inflammatory bowel disease Recent blood loss Recent blood loss Malignancy/Marrow infiltration Malignancy/Marrow infiltration Chronic renal failure Chronic renal failure Transient erythroblastopenia of chidhood Transient erythroblastopenia of chidhood Marrow aplasia/hypoplasia Marrow aplasia/hypoplasia HIV infection HIV infection Hemophagocytic syndrome Hemophagocytic syndrome

28 Macrocytic Anemia D/D Megaloblastic anemias Megaloblastic anemias Vit.B12 def. - (1) pernicious anemia Vit.B12 def. - (1) pernicious anemia (2) malabsorption (2) malabsorption Folate def. - (1) malnutrition (2) malabsorption Folate def. - (1) malnutrition (2) malabsorption (3) chronic hemolysis (4)drugs - phenytoin, sulfa (3) chronic hemolysis (4)drugs - phenytoin, sulfa Hemolysis Hemolysis Myelodysplastic syndrome Myelodysplastic syndrome Marrow failure - Aplastic anemia Marrow failure - Aplastic anemia Chronic liver disease Chronic liver disease Hypothyroidism Hypothyroidism

29 Macrocytic anemia D/D Macrocytic anemia may be the result of megaloblastic (folate or vitamin B12 deficiency) or nonmegaloblastic causes. Folate deficiency can in turn be due to either reduced intake or diminished absorption. Severe macrocytic anemia (MCV >125 fL) is almost always megaloblastic. Macrocytic anemia may be the result of megaloblastic (folate or vitamin B12 deficiency) or nonmegaloblastic causes. Folate deficiency can in turn be due to either reduced intake or diminished absorption. Severe macrocytic anemia (MCV >125 fL) is almost always megaloblastic.

30 The Normocytic Anemias These may be classified as follows: These may be classified as follows: underproduction of erythrocytes due to underproduction of erythrocytes due to (1) the anemia of chronic disease (1) the anemia of chronic disease (2) marrow failure (2) marrow failure (3) renal failure (decreased erythropoietin) (3) renal failure (decreased erythropoietin) loss or destruction of erythrocytes due to loss or destruction of erythrocytes due to (1) hemolysis (1) hemolysis (2) acute blood loss (2) acute blood loss The reticulocyte count is useful in drawing this distinction, being elevated in (b) and reduced in (a). The reticulocyte count is useful in drawing this distinction, being elevated in (b) and reduced in (a).

31 The Normocytic Anemias The causes of normocytic anemias include aplastic anemia, bone-marrow replacement, pure red-cell aplasia, anemias of chronic disease, hemolytic anemia, and recent blood loss. A number of anemias have a genetic etiology. Examples of such inherited disorders include hereditary spherocytosis, sickle-cell (SC) anemia, and thalassemia The causes of normocytic anemias include aplastic anemia, bone-marrow replacement, pure red-cell aplasia, anemias of chronic disease, hemolytic anemia, and recent blood loss. A number of anemias have a genetic etiology. Examples of such inherited disorders include hereditary spherocytosis, sickle-cell (SC) anemia, and thalassemia

32 Hemolytic Disorders Hemoglobinopathy– Hb SS,SC,S-Bthal Hemoglobinopathy– Hb SS,SC,S-Bthal Enzymopathy--G6PD def, PK def Enzymopathy--G6PD def, PK def Membranopathy—Hereditary spherocytosis, elliptocytosis Membranopathy—Hereditary spherocytosis, elliptocytosis Extrinsic factors—DIC, TTP, HUS, Extrinsic factors—DIC, TTP, HUS, Immune hemolytic anemia---Autoimmune, Drug induced Immune hemolytic anemia---Autoimmune, Drug induced

33 Diagnostic Approach-History Age : Iron def rare without blood loss before 6 months in term infants. Age : Iron def rare without blood loss before 6 months in term infants. Family Hist &Genetics: Family Hist &Genetics: (1)X-linked: G6PD deficiency (1)X-linked: G6PD deficiency (2)Aut dominant: Spherocytosis (2)Aut dominant: Spherocytosis (3)Aut recessive:Sickle cell,Fanconi anemia (3)Aut recessive:Sickle cell,Fanconi anemia (4)Family member with early age of (4)Family member with early age of cholecystectomy/splenectomy cholecystectomy/splenectomy (5)Ethnicity (Thalassemia: Mediterranean; (5)Ethnicity (Thalassemia: Mediterranean; G6PD def: (Greeks, Blacks, Middle eastern) (6)Race:B-thal:Mediterranean,African,Asian; G6PD def: (Greeks, Blacks, Middle eastern) (6)Race:B-thal:Mediterranean,African,Asian; A-thal: Blacks, Asians A-thal: Blacks, Asians

34 Diagnostic Approach-History Nutrition: (1)Cows milk diet:iron def. Nutrition: (1)Cows milk diet:iron def. (2)Strict vegetarian:Vit B12 def. (2)Strict vegetarian:Vit B12 def. (3)Goats milk: Folate def. (3)Goats milk: Folate def. (4)Pica: Plumbism,Iron def. (4)Pica: Plumbism,Iron def. (5)Cholestasis, malabsorption:Vit E def (5)Cholestasis, malabsorption:Vit E def Drugs: (1)G6PD: oxidants (sulfa, primaquine) (2)Immune mediated hemolysis(penicillin) (3)Bone marrow suppression(chemotherapy) (4)Phenytoin increases folate requirement Drugs: (1)G6PD: oxidants (sulfa, primaquine) (2)Immune mediated hemolysis(penicillin) (3)Bone marrow suppression(chemotherapy) (4)Phenytoin increases folate requirement

35 Diagnostic Approach-History Diarrhoea-Malabsorption of VitB12/E/Fe. Inflammatory bowel disease and anemia of chronic disease with or without blood loss. Milk protein intolerance induced blood loss Intestinal resection: Vit B12 def Infection: Giardia:iron malabsorption Intestinal bacterial overgrowth:Vit B12 def Fish tapeworm:Vit B12 def -EBV,CMV,Parvovirus:BMsuppression Mycoplasma,Malaria:hemolysis Hepatitis:aplastic anemia Endocarditis, HIV

36 Physical exam reveals presence and potential causes of anemia Fever-acute infection,intravascular disease,collagen vascular disease Fever-acute infection,intravascular disease,collagen vascular disease Jaundice suggests hemolysis Jaundice suggests hemolysis Petechia & Purpura—bleeding tendency Petechia & Purpura—bleeding tendency Hypertension & edema-renal disease Hypertension & edema-renal disease Hepatosplenomegaly and lymphadenopathy— infiltrative disease Hepatosplenomegaly and lymphadenopathy— infiltrative disease Growth failure or poor wt. gain—Anemia of chronic disease or organ failure Growth failure or poor wt. gain—Anemia of chronic disease or organ failure Examine stool for blood; urine for hemoglobinuria Examine stool for blood; urine for hemoglobinuria (Admit & tranfuse if signs of CHF) (Admit & tranfuse if signs of CHF)

37 Physical Findings in Anemia Skin: Hyperpigmentation, café-au-lait spots- Fanconi anemia Petechia & purpura-BM infiltration, autoimmune hemolysis & thrombocytopenia Erythematous rash-Parvovirus, EB virus Butterfly rash-SLE ; Vitiligo-Vit B12 def. Skin: Hyperpigmentation, café-au-lait spots- Fanconi anemia Petechia & purpura-BM infiltration, autoimmune hemolysis & thrombocytopenia Erythematous rash-Parvovirus, EB virus Butterfly rash-SLE ; Vitiligo-Vit B12 def. Head:Frontal bossing-Thalassemia major, Head:Frontal bossing-Thalassemia major, Microcephaly-Fanconi anemia Microcephaly-Fanconi anemia Mouth: Glossitis-B12 def, iron deficiency Mouth: Glossitis-B12 def, iron deficiency Angular stomatitis-Iron deficiency Pigmentation-Peutz Jeghers syndrome Telangiectasia-Osler Weber Rendu syndrome Angular stomatitis-Iron deficiency Pigmentation-Peutz Jeghers syndrome Telangiectasia-Osler Weber Rendu syndrome

38 Physical Findings in Anemia Extremities:Absent thumb-Fanconi anemia -Spoon nails-Iron deficiency -Dystrophic nails-Dyskeratosis congenita Extremities:Absent thumb-Fanconi anemia -Spoon nails-Iron deficiency -Dystrophic nails-Dyskeratosis congenita CNS-Irritable, apathy-Iron def. -Peripheral neuropathy-lead poisoning -Ataxia, post.column signs-Vit B12 def - -Stroke-Sickle cell anemia CNS-Irritable, apathy-Iron def. -Peripheral neuropathy-lead poisoning -Ataxia, post.column signs-Vit B12 def - -Stroke-Sickle cell anemia Short stature-Fanconi anemia, Malnutrition Short stature-Fanconi anemia, Malnutrition

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40 Laboratory Evaluation Hematology: Complete Blood Count, Retic count, Peripheral smear, ESR, G6PD, Sickling(+/- inf), Hematology: Complete Blood Count, Retic count, Peripheral smear, ESR, G6PD, Sickling(+/- inf), Hb electrophoresis, Coombs Test, Osmotic fragility test, BM aspiration Hb electrophoresis, Coombs Test, Osmotic fragility test, BM aspiration Biochemistry: LFT, UE, RFT, S.Ferrtin, S.Haptoglobin, Iron, VitB12, Folate, Ceruloplasmin Biochemistry: LFT, UE, RFT, S.Ferrtin, S.Haptoglobin, Iron, VitB12, Folate, Ceruloplasmin Serology:Heterophil antibody, ANA,Viral Serology:Heterophil antibody, ANA,Viral Urinalysis, microscopy, culture/sensitivity Urinalysis, microscopy, culture/sensitivity Stool exam. for ova, parasites, occult blood Stool exam. for ova, parasites, occult blood Endoscopy: upper and lower bowel Endoscopy: upper and lower bowel Imaging: US Abdomen, Skeletal radiographs, Tc pertechnetate scan for Meckels diverticulum Imaging: US Abdomen, Skeletal radiographs, Tc pertechnetate scan for Meckels diverticulum Tissue biopsy: skin, lymph node, liver Tissue biopsy: skin, lymph node, liver

41 Laboratory Evaluation Hematology: Complete Blood Count, Retic count, Peripheral smear, ESR, G6PD, Sickling(+/- inf), Hematology: Complete Blood Count, Retic count, Peripheral smear, ESR, G6PD, Sickling(+/- inf), Hb electrophoresis, Coombs Test, Osmotic fragility test, BM aspiration Hb electrophoresis, Coombs Test, Osmotic fragility test, BM aspiration Biochemistry: LFT, UE, RFT, S.Ferrtin, S.Haptoglobin, Iron, VitB12, Folate, Ceruloplasmin Biochemistry: LFT, UE, RFT, S.Ferrtin, S.Haptoglobin, Iron, VitB12, Folate, Ceruloplasmin Serology:Heterophil antibody, ANA,Viral Serology:Heterophil antibody, ANA,Viral Urinalysis, microscopy, culture/sensitivity Urinalysis, microscopy, culture/sensitivity Stool exam. for ova, parasites, occult blood Stool exam. for ova, parasites, occult blood Endoscopy: upper and lower bowel Endoscopy: upper and lower bowel Imaging: US Abdomen, Skeletal radiographs, Tc pertechnetate scan for Meckels diverticulum Imaging: US Abdomen, Skeletal radiographs, Tc pertechnetate scan for Meckels diverticulum Tissue biopsy: skin, lymph node, liver Tissue biopsy: skin, lymph node, liver

42 Microcytic Anemia TEST Iron def ThalMin An of ch dis TEST Iron def ThalMin An of ch dis S.Iron - low normal normal S.Iron - low normal normal S.Ferritin - low N/H N/H S.Ferritin - low N/H N/H Marrow iron - low N/H N/H Marrow iron - low N/H N/H Hb A2 or F - N H=Bthal N Hb A2 or F - N H=Bthal N N=Athal N=Athal RDW - high normal N/H RDW - high normal N/H MCV ÷ RBC - >13 13 < 13 Sickle/B-thal – Hb S > Hb A Sickle/B-thal – Hb S > Hb A Absence of microcytosis in both parents excludes B-thal or Sickle/B-thal but not A-thal Absence of microcytosis in both parents excludes B-thal or Sickle/B-thal but not A-thal

43 Anemia-treatment How can Anemia be treated ? As there are many factors causing anemia, the main treatment is for the cause. How can Anemia be treated ? As there are many factors causing anemia, the main treatment is for the cause. Specific treatment of disorder causing anemia. Specific treatment of disorder causing anemia. Replacement of missing factors (iron, vitamin B12, folate) Replacement of missing factors (iron, vitamin B12, folate) In many chronic anemias regular blood transfusions are needed (thalassemia, myelodysplastic syndrome) In many chronic anemias regular blood transfusions are needed (thalassemia, myelodysplastic syndrome) Blood transfusion is usually needed in acute blood loss or if the patient has severe symptoms or in heart failure Blood transfusion is usually needed in acute blood loss or if the patient has severe symptoms or in heart failure (Problems of blood transfusion) (Problems of blood transfusion)

44 Iron deficiency anemia (IDA) It is a condition when supply of iron in the body to bone marrow falls short of that required for the production of red blood cells. It is the commonest cause of anemia throughout the world. It is a condition when supply of iron in the body to bone marrow falls short of that required for the production of red blood cells. It is the commonest cause of anemia throughout the world.

45 Iron Deficiency Anemia The incidence of anemia in the general population is about 1.5%. The incidence of anemia in the general population is about 1.5%. Iron deficiency related to inadequate replacement of lost iron is the most frequent cause of asymptomatic anemia and has a variety of causes. Iron deficiency related to inadequate replacement of lost iron is the most frequent cause of asymptomatic anemia and has a variety of causes. Iron deficiency is common among women of childbearing age; 10% to 20% of menstruating women have abnormally low concentrations of hemoglobin (usually <12 g per 100 mL). Iron deficiency is common among women of childbearing age; 10% to 20% of menstruating women have abnormally low concentrations of hemoglobin (usually <12 g per 100 mL).

46 Iron Deficiency Anemia What are the causes of IDA ? What are the causes of IDA ? Increased physiological demand for more red blood cells Increased physiological demand for more red blood cells eg: increased physical activity. eg: increased physical activity.  In children, during spurts of growth. In women during menstruation, pregnancy, parturition In women during menstruation, pregnancy, parturition and lactation. and lactation. Inadequate dietary intake due to poor economic reasons Inadequate dietary intake due to poor economic reasons or deficient foods. or deficient foods.  Decreased absorption due to disorders in the digestive system. system.  GI blood loss Peptic ulcer, piles, hiatus hernia, carcinoma of stomach, carcinoma colon, chronic ingestion of a certain type stomach, carcinoma colon, chronic ingestion of a certain type of pain relievers, hookworm infestation. of pain relievers, hookworm infestation.

47 Iron Deficiency Anemia Between 20% and 60% of pregnant women have hemoglobin levels <11 g per 100 mL. Anemia was found in 6% of white women and 17% of black women during the first trimester and in 25% of white women and 46% of black women during the third trimester. Between 20% and 60% of pregnant women have hemoglobin levels <11 g per 100 mL. Anemia was found in 6% of white women and 17% of black women during the first trimester and in 25% of white women and 46% of black women during the third trimester.

48 Iron Deficiency Anemia The high rates of anemia in pregnant women are not attributable to iron deficiency alone, however. In a large study of low-income, urban, mostly minority pregnant women, only 12.5% were iron deficient. Women progressing through pregnancy develop a lowered hematocrit as a result of physiologic hydremia related to a disproportionate increase in plasma volume. The high rates of anemia in pregnant women are not attributable to iron deficiency alone, however. In a large study of low-income, urban, mostly minority pregnant women, only 12.5% were iron deficient. Women progressing through pregnancy develop a lowered hematocrit as a result of physiologic hydremia related to a disproportionate increase in plasma volume.

49 Iron Deficiency Anemia  The daily oral iron requirement for men and postmenopausal women is 0.5 and 1 mg  Menstruating and pregnant women have higher requirements: 2 mg and 2.5 mg, respectively.  The replacement of lost iron is complicated by the fact that only 5% to 10% of the 10 to 20 mg of the iron in the average adult diet is absorbed.  Anemia is less likely to occur in women taking birth control pills and more likely to occur in women with intrauterine devices.

50 Iron Deficiency Anemia Because men and postmenopausal women rarely develop iron deficiency that is not related to gastrointestinal blood loss (often occult), an evaluation of gastrointestinal tract must be performed when an iron deficiency is detected in these individuals Because men and postmenopausal women rarely develop iron deficiency that is not related to gastrointestinal blood loss (often occult), an evaluation of gastrointestinal tract must be performed when an iron deficiency is detected in these individuals

51 IDA-Practice Point Iron def. is common in children 9mo-3yr Iron def. is common in children 9mo-3yr Iron def. anemia in a child over 3yr should prompt consideration of occult blood loss. Iron def. anemia in a child over 3yr should prompt consideration of occult blood loss. Infants less than 6months generally do not develop iron def.; the exception to this rule is premature infants,who are at risk of iron def.at 4mo, if iron supplementation is not given. Infants less than 6months generally do not develop iron def.; the exception to this rule is premature infants,who are at risk of iron def.at 4mo, if iron supplementation is not given.

52 Iron Deficiency Anemia-Diagnosis Red blood cell count may be normal or decreased. Red blood cell count may be normal or decreased. Peripheral blood smear shows pale small cells. Peripheral blood smear shows pale small cells. Aniso-poikilocytosis Aniso-poikilocytosis White blood cell count usually normal White blood cell count usually normal Serum iron is reduced Serum iron is reduced Total iron binding capacity of blood shows an increase. Total iron binding capacity of blood shows an increase. Low serum ferritin Low serum ferritin

53 Iron Deficiency Anemia-Treatment Correction of iron deficiency - to restore hemoglobin level. Correction of iron deficiency - to restore hemoglobin level. To replenish iron stores. To replenish iron stores. Oral iron administration is advised. (Side effects of oral iron) Oral iron administration is advised. (Side effects of oral iron) Parenteral iron may be needed occasionally Parenteral iron may be needed occasionally Treat the underlying cause Treat the underlying cause

54 Anemia of Chronic Disease Patients with cancer, infection, or inflammation, commonly have a mild-to- moderate anemia caused by red cell underproduction. This 'anemia of chronic disease' is very common, and is usually normocytic. Some cases develop abnormalities of iron metabolism, in which case there may be a microcytosis. Patients with cancer, infection, or inflammation, commonly have a mild-to- moderate anemia caused by red cell underproduction. This 'anemia of chronic disease' is very common, and is usually normocytic. Some cases develop abnormalities of iron metabolism, in which case there may be a microcytosis.

55 Hemolysis Hemolysis is defined as the premature destruction of red blood cells, from whatever cause. Hemolysis is defined as the premature destruction of red blood cells, from whatever cause. Recognising the presence of hemolysis Recognising the presence of hemolysis The simplest tests are The simplest tests are (a) Raised reticulocyte count (b) Raised indirect (unconjugated) bilirubin (c) Raised serum LDH (d) Diminished serum haptoglobin concentration. Further more sophisticated testing may be needed in some cases.

56 Hemolysis A Direct Coombs' Test tells you whether the red blood cells are antibody-coated, and, in the presence of hemolysis, indicates an immune-mediated process (Autoimmune hemolytic anemia). A Direct Coombs' Test tells you whether the red blood cells are antibody-coated, and, in the presence of hemolysis, indicates an immune-mediated process (Autoimmune hemolytic anemia). Note that many patients with a positive Direct Coombs' test do not have hemolysis. Note that many patients with a positive Direct Coombs' test do not have hemolysis.

57 Hemolysis Principal causes Inherited abnormalities * Membrane (Hereditary Spherocytosis) * Hemoglobin (Sickle Cell Anemia) * Enzymes (Glucose-6-phosphate dehydrogenase (G6PD) deficiency) dehydrogenase (G6PD) deficiency)

58 Hemolysis Acquired causes Immune Immune Warm and Cold Autoimmune Hemolytic Anemia Warm and Cold Autoimmune Hemolytic Anemia Non-immune Non-immune * Mechanical Damage from leaky heart valves * Microangiopathic hemolytic anemia (MAHA) like TTP, HUS & DIC

59 Lead Poisoning Hypochromic microcytic anemia Hypochromic microcytic anemia Associated iron deficiency Associated iron deficiency Child has pica and is exposed to lead paint or lead dust Child has pica and is exposed to lead paint or lead dust Blood smear shows basophilic stipling and blood lead is elevated. Blood smear shows basophilic stipling and blood lead is elevated. Removal from exposure,chelation therapy and correction of iron deficiency are important. Removal from exposure,chelation therapy and correction of iron deficiency are important.

60 THALASSEMIA Normal Hb is a tetramer of 2 alpha and 2 beta chains Normal Hb is a tetramer of 2 alpha and 2 beta chains Alpha-thalassemia:decrease or total lack of alpha globin synthesis Alpha-thalassemia:decrease or total lack of alpha globin synthesis Beta-thalassemia:decrease or total lack of beta globin synthesis Beta-thalassemia:decrease or total lack of beta globin synthesis

61 THALASSEMIA Clinical classification- Clinical classification- Silent carrier(AorB):normal CBC Silent carrier(AorB):normal CBC Thal trait(AorB):mild anemia(HM) Thal trait(AorB):mild anemia(HM) HbHdisease(A-thal):moderately severe hemolytic anemia,icterus,splenomegaly HbHdisease(A-thal):moderately severe hemolytic anemia,icterus,splenomegaly Severe Beta-thal:severe anemia,growth retardation,hepatosplenomegaly,bony def. Severe Beta-thal:severe anemia,growth retardation,hepatosplenomegaly,bony def. Thalassemia major:tranfusion dependent Thalassemia major:tranfusion dependent Thal-intermedia:no regular transfusions Thal-intermedia:no regular transfusions

62 THALASSEMIA-complications HbH disease:severe hemolytic anemia,spenomegaly,hypersplenism HbH disease:severe hemolytic anemia,spenomegaly,hypersplenism Thal-major:poorly trasfused-skeletal abnormalities,growth retardation,CHF Thal-major:poorly trasfused-skeletal abnormalities,growth retardation,CHF Thal-major:well transfused with iron overload- (1)Endocrine disturbances:delayed puberty,growth retardation,diabetes mellitus,hypothyroidism (2)Cardiac:arrhythmias, congestive heart failure (3)Hepatic:cirrhosis,liver failure Thal-major:well transfused with iron overload- (1)Endocrine disturbances:delayed puberty,growth retardation,diabetes mellitus,hypothyroidism (2)Cardiac:arrhythmias, congestive heart failure (3)Hepatic:cirrhosis,liver failure

63 THALASSEMIA-Lab Thal trait:Hb 9-10 g/dl Thal trait:Hb 9-10 g/dl HbH disease:Hb 6-7 g/dl HbH disease:Hb 6-7 g/dl Thal intermedia:Hb 7-8 g/dl Thal intermedia:Hb 7-8 g/dl Thal major:Hb less than 5 g/dl Thal major:Hb less than 5 g/dl Peripheral smear:hypochromic,microcytic, anisopoikilocytosis,target cells Peripheral smear:hypochromic,microcytic, anisopoikilocytosis,target cells Hb electrophoresis: (1)Thal trait-HbF 1-5%, HbA2 3.5-8%,rest HbA (2)Thal major- HbF 20- 100%,HbA2 2-7%,HbA 0-60% Hb electrophoresis: (1)Thal trait-HbF 1-5%, HbA2 3.5-8%,rest HbA (2)Thal major- HbF 20- 100%,HbA2 2-7%,HbA 0-60%

64 THALASSEMIA-therapy Red cell transfusion 3-4 weekly-Hb 9-10 Red cell transfusion 3-4 weekly-Hb 9-10 Chelation therapy with desferrioxamine Chelation therapy with desferrioxamine Splenectomy if transfusion >200ml/kg/yr Splenectomy if transfusion >200ml/kg/yr Folic acid 5mg daily Folic acid 5mg daily Penicillin prophylaxis to all splenectomised Penicillin prophylaxis to all splenectomised Pneumococcal and Hib vaccine before sply. Pneumococcal and Hib vaccine before sply. Cholecystectomy for gall stones Cholecystectomy for gall stones Bone marrow transplantation is curative Bone marrow transplantation is curative Genetic counselling Genetic counselling

65 SICKLE CELL DISEASE SA :Sickle cell trait-asymptomatic SA :Sickle cell trait-asymptomatic SS :Sickle cell anemia SS :Sickle cell anemia S-Bthal:Sickle cell-beta thal S-Bthal:Sickle cell-beta thal SC :Hb SC disease SC :Hb SC disease Pathophysiology:Valine replaced by glutamic acid at Beta 6 position. With deoxygenation HbS crystallises&gels Pathophysiology:Valine replaced by glutamic acid at Beta 6 position. With deoxygenation HbS crystallises&gels

66 Clinical features Anemia:chronic,onset at 3-4 mo Anemia:chronic,onset at 3-4 mo Aplastic crisis:parvo virus B12 Aplastic crisis:parvo virus B12 Sequestation crisis:usuallyspleen Sequestation crisis:usuallyspleen Hemolytic crisis Hemolytic crisis Dactylitis:Hand foot syndrome(infant) Dactylitis:Hand foot syndrome(infant) Painful crisis:muscle,bone,bone marrow,lung, intestines Painful crisis:muscle,bone,bone marrow,lung, intestines Cerebrovascular accidents Cerebrovascular accidents Acute chest syndrome:infection,infarction,emb Acute chest syndrome:infection,infarction,emb Chronic lung disease:pulmonary fibrosis,restictive lung disease,cor pulmonale Chronic lung disease:pulmonary fibrosis,restictive lung disease,cor pulmonale

67 Clinical features Priapism Priapism Ocular:retinopathy Ocular:retinopathy Gall bladder disease:stones,cholecystitis Gall bladder disease:stones,cholecystitis Renal:hematuria,conc.deficit,nephropathy Renal:hematuria,conc.deficit,nephropathy Cardiomyopathy Cardiomyopathy Skeletal:avascular necrosis of femoral head Skeletal:avascular necrosis of femoral head Leg ulceration:in older pts Leg ulceration:in older pts Infections:pneumococcal pneumonia,meningitis, arthritis,Hinf sepsis,salmonella&staph osteomyelitis,mycoplasma pneumonia,viral infe Infections:pneumococcal pneumonia,meningitis, arthritis,Hinf sepsis,salmonella&staph osteomyelitis,mycoplasma pneumonia,viral infe Growth failure,delayed puberty Growth failure,delayed puberty Psychologic problems:chronic illness,chronic pain Psychologic problems:chronic illness,chronic pain

68 THERAPY Anemia is usually chronic&compensated Anemia is usually chronic&compensated Blood transfusion only given based on clinical condition,Hb level&retic count Blood transfusion only given based on clinical condition,Hb level&retic count Crisis:Splenic sequestration crisis,aplastic crisis,hyperhemolytic crisis-in all of these PRBC is indicated when anemia is sympto. Crisis:Splenic sequestration crisis,aplastic crisis,hyperhemolytic crisis-in all of these PRBC is indicated when anemia is sympto. Pain crisis:IVF,analgesia with narcotics,NSAIDs Pain crisis:IVF,analgesia with narcotics,NSAIDs Acute chest syndrome:O2,judicial use of analgesics&fluids,antibiotics,PRBC Acute chest syndrome:O2,judicial use of analgesics&fluids,antibiotics,PRBC Stroke:O2,fluids,exchange transfusion Stroke:O2,fluids,exchange transfusion Hydroxyurea:decrease number&severity of VOC Hydroxyurea:decrease number&severity of VOC Bone marrow transplantation Bone marrow transplantation

69 G6PD deficiency Episodic hemolysis on exposure to oxidants Episodic hemolysis on exposure to oxidants Severity of hemolysis depends on the enzyme variant Severity of hemolysis depends on the enzyme variant Gene for G6PD is on X chromosome Gene for G6PD is on X chromosome Jaundice,dark urine(bilirubin,hemoglobin), Jaundice,dark urine(bilirubin,hemoglobin), Red cells appear blistered Red cells appear blistered G6PD levels may be normal with hemolysis G6PD levels may be normal with hemolysis Therapy:PRBC,IVF,urine alkalinisation Therapy:PRBC,IVF,urine alkalinisation Prevention:avoid oxidants,fava beans,henna Prevention:avoid oxidants,fava beans,henna

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