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Anemia SMD

Micro/macro/normocytic anemias

4 causes of microcytic anemia 1. Fe deficiency 2. Thalassemia 3.Pb poisoning 4.Anemia of chronic disease (10%)
Causes of Fe deficiency 1. dietary 2. malabsorptio n3. bleeding 4.increased need eg. pregnancy, rapid growth
Clinical features of Pb poisoning -microcytic anemia-irritability-cognitive impairment-abdominal pain
Clinical presentation of Fe deficiency -pallor- skin creases, conjunctiva-irritability, fatigue, tachycardia-angular stomatitis-blue sclera-pica
Lab results of Fe deficiency -Gold standard: bone marrow biopsy (rarely used)-Ferritin LOW-Serum Fe LOW-TIBC HIGH-Transferrin saturation LOW-Soluble transferrin receptor HIGH
7 Causes of macrocytic anemia 1. B12 deficiency 2. Folate deficiency 3. Drugs 4. Myelodysplasia 5. Liver disease 6. Reticulocytosis 7. Hypothyroidism
5 factors required for B12 absorption 1. Diet 2. Acid and pepsin in stomach 3. Pancreatic proteases 4. IF5. Intact ileum with B12-IF receptors
Daily vitamin B12 requirements/ total body store 2ug/day, 2-5mg body stores
Causes of B12 deficiency Lack of IF-autoimmune-gastrectomy-disease of small bowel (Crohn's)
Clinical features of B12 deficiency -macrocytic anemia -other cytopenias -mild jaundice -neurological changes -malabsorption -smooth red tongue
Lab tests for B12 deficiency -Homocysteine HIGH -MMA HIGH -B12 LOW -anti-parietal or IF
Peripheral blood smear of B12 deficiency -anemia -oval macrocytes -low WBC -low Plts -hypersegmented neutrophils
MCV predictive value for B12/folate deficiency 80-100 <25%, 115-129 50%, >130 100%
Causes of false low B12 levels -folate deficiency -pregnancy -oral contraceptives -AIDS
Clinical features of folate deficiency -macrocytic anemia -otehr cytopenias
Diagnosis of folate deficiency -low serum folate or RBC folate -high Hcy -normal MMA -hypersegmented neutrophils -megaloblastic marrow
Storage of Fe in: serum? tissue? muscles? storage? hemoglobin/transferrin, cytochromes/enzymes, myoglobin, ferritin/hemosiderin
What is hemosiderin? Form of Fe stored in macrophages visualized by Prussian Blue stain.
Daily Fe requirement? 10-15mg/day
Normocytic anemias 1. Acute blood loss 2. Anemia of Chronic Disease 3. Hemolysis 4. Renal failure 5. Myelodysplasia
Pathophysiology of ACD Decreased RBC survival, decreased RBC production, EPO "inappropriately normal", altered Fe metabolism
What happens to the Fe in ACD? sequestration of Fe into macrophages
What are cytokines role in ACD? IL-1, TNF, IL-6 decrease EPO and increase hepcidin
how does hepcidin affect Fe? Blocks ferroportin from releasing Fe so it is stored in bone marrow. Also decreases Fe absorption. Induced by IL-6
Lab findings of ACD Hb 85-115, normochromic, normocytic, serum Fe LOW, transferrin sat LOW, Ferritin NORMAL or ELEVATED, retic NORMAL, bone marrow NORMAL, CRP HIGH
Significance of reticulocyte count in ACD? Inappropriately normal/LOWER than expected for anemia.
Special cell tyeps in ACD Burr Cells, kidney disease - Target Cells, liver disease -
Thrombocytosis is indicative of what? Increased platelets, usually reactive and increased with chronic inflammation, iron deficiency, or myeloproliferative disorders
How does reticulocyte count help DDX of normocytic anemia? ACD LOW, bleeding HIGH, hemolysis HIGH, marrow failure LOW
What is HbH disease? Only one functional alpha globulin gene, beta4 globulin
What is Hydrop fetalis? no functional alpha globulin, Hb Barts gamma4 globulin
What are H bodies? Aggregated beta globulin chains seen in alpha thalassemia
What is beta thalassemia minor? heterozygous for beta globin, increase levels of HbA2 and HbF
Diagnosis of thalassemia? hypochromic, microcytic,splenomegaly, increased HbA2 or HbF
Physical exam of hemolytic disease jaundice, splenomegaly, expansion of bone marrow space
Lab tests for hemolytic disease normocytic anemia- increased erythropoeisis, reticulocytes, polychromasia, bone marrow hyperplasia -increased unconjugated bilirubin, increased LDH
Lab tests for intravascular hemolysis LOW serum haptoglobin, HIGH plasma Hb, HIGH urobilinogen, hemoglobinuria, hemosiderinuria, methemalbumin
Three main causes of intracorpuscular defects leading to hemolysis hemoglobin, enzymes, membrane proteins
two RBC membrane conditions leading to hemolytic anemia Spherocytosis, elliptocytosis
2 RBC metabolism defects leading to hemolytic anemia G6PD deficiency, pyruvate kinase deficiency
Special cell types seen in G6PD deficiency heinz bodies, bite cells
Two main causes of extracorpuscular disorders of RBCs Immune hemolytic and non-immune hemolytic anemia
Lab test for autoimmune hemolytic anemia? direct antiglobulin test (Coomb's test)
Two types of autoimmune hemolytic anemias cold-acting antibody and warm acting antibody
4 cell lineages of hematopoietic stem cells granulocyte, erythrocyte, monocyte, megakaryocyte
Why would the reticulocyte be low? Decreased production or release of RBCs. ACD, Fe/folate/B12 deficiency, aplastic anemia
When would EPO and retic count be inappropriately normal? anemia of inflammation
How are lab tests different for Fe vs ACD? Fe: microcytic, LOW Fe, ferritin, bone marrow stores, transferrin sat, HIGH TIBCACD: normo/microcytic, LOW serum Fe, TIBC, transferrin sat, HIGH bone marrow stores, ferritin
What are two lab tests for anemia of inflammation? ESR or CRP
Therapeutic option for ACD? erthroid stimulating agents
What is HbH disease caused by genotypically? What will the distribution of Hb types be? only one functional alpha globin allele. will get HbH (4 beta), low HbA. Get H bodies
What are H bodies? Accumulation of beta globin chains due to excess. In HbH disease due to inability to produce much alpha globin.
What is Hb Barts? 4 gamma chains in alpha thalassemia.
What lab results indicate beta thalassemia major? absence of HbA, increase in HbF and HbA2. microcytic, hypochromic, mild anemia
When can thalassemia be diagnosed? alpha: at birth. beta: 6 mo
How do you distinguish between Fe deficiency and thalassemia? serum ferritin, TIBC
what is the phenotype of a HbE/B-thal compound heterozygote? severe anemia like beta-thal major
Created by: baby_manatee