Anemia Flashcards
(37 cards)
Name non hematological manifestations of iron deficiency anemia (8)
- Pica, pagophagia
- Irritability, hyperactivity
- Reduced cognition
- Reduced work performance
- Restless leg syndrome
- Breath holding spells
- Decreased cardiac output
- Stroke
What is the iron challenge test?
Allows to evaluate if oral iron is absorption; Measurement of serum iron before and 2h after 1 mg/kg elemental iron
Name causes of reduced absorption of oral iron
- Poor bioavailability: type of iron, cow milk, concomitant absorption of inhibitors (bran, tannins, …), high pH (antiacid, gastrectomy) - GI surface loss/dysfunction: celiac enteropathy, duodenectomy, short gut syndrome
What is the recommended monitoring after starting iron?
CBC/retics at 1-2 weeks for severe cases CBC at 2-3 months for all; should document resolution of anemia Continue treatment for at least 1 month following normalisation of CBC counts
DDx polycythemia (5)
- Hypoxia: smoking, high altitude - Hb variants with high Hb affinity - Polycythemia vera: JAK 2 mutation - EPO receptor mutation - Elevation of EPO, can be 2nd to Chuvash mutation, VHL, HIF gene mutation
Polycythemia work up
- SaO2 - CBC, smear - Serum EPO levels - Imaging: renal, posterior fossa - O2-Hb dissociation curve
Hemochromatosis: - Pathophysiology - Causes - Management
- Causes: inherited (AR); most commonly HFE gene; juvenile form (HJV/HAMP) - Pathophysiology: decreased hepcidin levels, leads to iron accumulation - Management: monitoring iron studies, low iron diet, refrain from alcohol Therapeutic phlebotomy if Sx Beware of risk of thrombosis
Causes of folate deficiencies
- Decreased intake: severe malnutrition, sick premature infant, unpasteurized goat milk - Intestinal malabsorption: celiac disease, IBD, anticonvulsants - Increased requiremements: pregnancy, chronic hemolytic anemia - Hereditary folate malabsorption, inborn errors of metabolism
Causes of B12 deficiency
- Decreased intake: vegan (and their breastfed infant) - Decreased intestinal absorption (mediated by IF): Pernicious anemia, post-gastrectomy - Malabsorption (non-IF mediated): ileal resection, IBD, Imerslund-Grasbeck sd - Increased intestinal utilization: intestinal blind loop, fish tapeworm
Congenital pernicious anemia: - Inheritance - Diagnosis - Treatment
- AR - Low serum B12 level, abnormal Schilling test, corrected by IF - IM B12
Imerslund-Grasbeck syndrome - Inheritance - Diagnosis - Treatment
- AR, mutations leading to inability of IF/B12 to bind in terminal ileum - Low serum B12 level, abnormal Schilling test, not corrected by IF Proteinuria - IM B12
Transcobalamin II deficiency - Inheritance - Symptoms - Definitive diagnosis - Treatment
- AR - Pancytopenia, diarrhea, FTT in early infancy - Low/absent serum TC-II level - Daily high dose IM B12
Lead poisoning - laboratory findings
- Basophilic stippling in erythrocytes - Elevated free erythrocyte protoporphyrin - Only if concommitant IDA (pica): microcytic anemia
Which infants should receive supplemental iron?
Premature, LBW infants Neonate with anemia proven or suspected to be 2nd to external blood loss
Iron-resistant iron-deficient anemia: - Underlying cause
Homozygous deletions of matripase-2 genes (TMPRSS6) Increases hepcidin, leading o reduced dietary iron aborpstion and iron sequestration
What is basophilic stippling? Associated conditions (7)
Aggregated ribosomes with incompletely degrade RNA 1. Thalassemia 2. Hemoglobinopathies 3. Lead poisoning 4. Pyrimidine 5’ nucleotidase deficiency 5. Sideroblastic anemia 6. MDS 7. Congenital dyserythropoietic anemia
What are Howell-Jolly bodies? Associated conditions (6)
Retained nuclear material 1. Post-splenectomy 2. Functional asplenia 3. Severe hemolytic anemia 4. Megaloblastic anemia 5. Cong dyserythropoietic anemia 6.Occasionally newborns, prematures
What are Pappenheimer bodies? Associated conditions (2)
Lysosomes containing iron-protein complexes 1. Asplenia (anatomical or functional) 2. Iron overload
What are Heinz bodies? How are they assessed? Associated conditions (4)
Aggregates of denatured hemoglobin, attached to inner red cell membrane Supravital stain, e.g. brilliant cresyl blue 1. G6PD deficiency 2. Hereditary Heinz body hemolytic anemia 3. Oxidant drug or chemical poisoning 4. Rare hemoglobinopathies
What are hemoglobin H inclusions? How are they assessed? Associated condition (1)
Precipitates of excess beta-tetramer chains Supravital stain, e.g. brilliant cresyl blue 1. Alpha-thal with deletion of 3/4 genes
Pelger-Huet anomaly: - Characteristic morphology - Associated mutation
- Hyposegmented bilobed neutrophils (heterozygotes) or unilobed neutrophils (homozygous) - Lamin B receptor
Diagnosis?
Bone marrow findings?
Gaucher disease;
Gaucher cells = reticuloendothelial cells (monocytic lineage) with lysosomes stuffed with glucosphingolipids
Diagnosis?
Name of this finding
Mucopolysaccharidoses
Finding = Alder-Reilly anomaly (prominent azurophilic granulation); lysosoal bluid-up of mucopolysaccharides
Hereditary stomatocytosis:
- Underlying anomaly
- Diagnostic features (5)
- Mutations in Rh associated glycoprotein, which leads to cation permeable red cells with resultat overhydration (very icnreased intracellular Na)
- Diagnostic features: peripheral smear stomatocytes (5-50%); hemolysis; macrocytosis; low MCHC; positive osmotic fragility test
