Hematologic Disorders Flashcards

Question

Alpha thalassemia major: clinical presentation

Answer 1

Will not survive outside of utero

Answer 2

Father → Has sickle cell train, on copy of sickle cell gene + Mother → Has sickle cell train, one copy of sickle cell gene Possible Children: → Does NOT have sickle cell anemia, two copies of unaffected gene → Has sickle cell train, one copy of sickle cell gene → Has sickle cell train, one copy of sickle cell gene → Has sickle cell anemia, two copies of sickle cell gene

Answer 3

1. 6,000 - 10,000/mm3 2. Leukocytosis >10,000; leukopenia <6,000 3. Anticipate leukocytosis response in significant bacterial infection such as appendicitis, pyelonephritis, bacterial pneumonia, pelvic inflammatory diseases, cancer, etc. For viral and leukemia, you may see leukopenia instead. 4. Always order WBC with differential!

Answer 4

1. Nobody Likes My Educational Background Neutrophils (aka poly or segs) = ~60% - Bands (0-4%) - Young neutrophil form (if increase, called "left shift") - Point of action: Bacteria; increases with bacterial infection - When cell line elevated → Neutrophilia Lymphocyte = ~30% - Point of action: Virus (increases with viral infection) - When cell line elevated → Lymphocytosis Monocyte = ~6% - Point of action: Debris (recovery from bacterial infection) - When cell line elevated → Monocytosis Eosinophil = ~3% - Point of action: Allergens, parasites (worms, wheezes, weird diseases) - When cell line elevated → Eosinophilia Basophil = ~1% - Point of action: Anaphylaxis, not fully understood; allergic, inflammation - When cell line elevated → Basophilia

Answer 5

1. Bleeding. Initial hgb and hct during active bleeding may be in the normal range if checked immediately. May take up to several hours for the blood loss to show up on the CBC/platelet count. Reticulocytosis will increase within a few days. 2. Classes + % of blood loss + presentation - I → up to 15% → minimal increase in HR, no change in BP and RR - II → 15-30% → tachycardia (HR 100-120), tachypnea (RR 20-24), and ↓ pulse pressure - severe hemorrhage → 30-40% → HR >120, weaker pulse, ↑ RR, ↓ UOP, and AMS; look for s/s shock

Answer 6

* ANC <1,500/mm3 1. Benign ethnic neutropenia (African Americans have a slightly lower ANC) and drug-induced neutropenia Drugs: - psychotrophics - antivirals - antibiotics - NSAIDs - antithyroids - ACEi - propranolol 2. ANC > 1,000 3. - CBC with diff - Blood smear - health history - medication, +OTCs, herbs, supplements - physical exam 4. If patient is febrile and yo u suspect bacterial infection → urgent eval is important! HIGH risk of bacteremia or sepsis

Answer 7

- Gradual onset of symmetric peripheral neuropathy starting in feet and/or arms; - numbness - ataxia (+ Romberg test) - loss of vibration and positive sense - impaired memory - dementia (severe cases) * Macrocytic anemia, MCV >100 fL Peripheral smear: - macro-ovalocytes - some megaloblasts - multisegmented neutrophils (>5-6 lobes)

Answer 8

1. Cancer of the beta lymphocytes (B cells); cancer of the lymph nodes (lemon) 2. - Night sweats - Fevers - Pain with ingestion of alcoholic drinks - Generalized pruritus with painless enlarged lymph nodes (neck) - Anorexia - Weight loss 3. Higher among young adults (20-40 years) or older adults (>60 years); MALES; Whites 4. Presence of Reed-Sternberg cells

Answer 9

1. Cancer o f the lymphocytes (usually B cells) and killer cells; cancer of the lymph nodes (lemon) 2. - Night sweats - Fever - Weight loss - Generalized lymphadenopathy (painless) 3. Usually in older adults (>65 years) 4. Prognosis is poor.

Answer 10

1. Cancer of the plasma cells 2/4. - Fatigue - Weakness - Bone pain that is usually located in the back or chest - Proteinuria with Bence-Jones proteins - Hypercalcemia - Normocytic anemia 3. More common in adults >/= 70 years

Answer 11

1. Platelet count <150,000/uL 2. 150,000 - 450,000/uL 3. Symptoms usually do not show until platelet count is <100,000/uL. - easy bruising (ecchymosis, petechiae) - bleeding gums - spontaneous nosebleeds - hematuria

Answer 12

1. An X-linked recessive disease that predominately affects males who have only one X chromosome. 2. Males with one X chromosome 3. Factor VIII deficiency 4. - Easy bruising - excessive bruising - bleeding into joints (hemarthrosis) - bleeding for several hours to days (circumcision, dental extractions) - severe bleeding with trauma, heavy menses, and hematuria 5. aPTT → prolonged PT = WNL Fibrinogen = WNL platelets = WNL 6. Medicines that increase bleeding (anticoagulants, aspirin, and NSAIDs) should be avoided

Answer 13

bleeding into joints

Answer 14

Males: 14-18 Females: 12-16

Answer 15

The proportion of RBCs in 1 mL of plasma Males: 42-52% Females: 37-47%

Answer 16

The measure of the average size of the RBCs in a sample of blood Normal: 80 - 100 fL (femtoliter) MCV < 80 → microcytic anemia MCV 80-100 → normocytic anemia MCV > 100 → macrocytic anemia

Answer 17

A measure of the average color of the RBCs in a sample of blood. ↓ in IDA and thalassemia (hypochromic) Normal in macrocytic and normocytic anemias Normal: 31-37 g/dL

Answer 18

Indirect measure of the color of RBCs. Decreased values mean pale or hypochromic RBCs. ↓ in IDA and thalassemia Normal with macrocytic anemias Normal: 25 - 35 pg/cell

Answer 19

A measure of available transferrin that is left unbound (to iron); used to transport iron in the body. ↑ if not enough iron to transport (IDA) Normal with thalassemia, vit B12 deficiency and folate deficiency (because iron levels are normal) Normal: 250 - 410 mcg/dL

Answer 20

The stored form of iron; produced in the intestines and stored in body tissue such as the spleen, liver, and bone marrow. Correlates with iron storage status in a healthy adult. * Most sensitive test for IDA ↓ in IDA (may be high if patient was misdiagnosed with IDA and erroneously given iron supplementation. AVOID iron supplements before testing serum ferritin level) Normal or high → thalassemia Normal: 20 - 400 ng/mL

Answer 21

Not as sensitive as ferritin; affected by recent blood transfusions ↓ in IDA Normal to high in thalassemia and macrocytic anemias.

Answer 22

A measure of the variability of the size of RBCs in a given sample. ↑ in IDA and thalassemia

Answer 23

Immature RBCs that still have their nuclei; slightly larger than RBCs. After 24 hours in circulation, reticulocytes lose their nuclei and mature into RBCs (no nuclei). The bone marrow will normally release small amounts to replace damaged RBCs. RBCs survive for 120 days before being sequestered by the spleen and broken down by the liver into iron and globulin (recycled) and bilirubin (bile) Normal: 0.5 - 2.5% (of total RBC count)

Answer 24

> 2.5% of Total RBC Count An elevation of reticulocytes is seen when the bone marrow is stimulated into producing RBCs; elevated within a few days with supplementation of iron, folate, or vitamin B12 (after deficiency) and after acute bleeding episodes, hemolysis, and leukemia, and with erythropoietin (EPO) treatment. Chronic bleeding does not cause ↑ of reticulocytes d/t compensation If no reticulocytosis after an acute bleeding episode (3-4 days), after appropriate supplementation of deficient mineral (iron, folate, or vit B12), or with EPO, rule out bone marrow failure (i.e., aplastic anemia; diagnosed with bone marrow biopsy)

Answer 25

Definition: variable shapes of RBCs Obtained from peripheral smear Seem with severe IDA May be accompanied by anisocytosis

Answer 26

Variable sizes of RBCs in peripheral smear; may be accompanied by poikilocytosis

Answer 27

Low values if deficiency occurs → macrocytic anemia aka megaloblastic anemia Normal folate: 3.1 - 17.5 ng/mL Normal Vit B12: >250 pg/mL

Answer 28

The GOLD-STANDARD (definitive) test to diagnose hemoglobinopathies such as sickle cell anemia, thalassemias, and many others. * Normal hemoglobin contains two alpha and two beta chains Adult norms Hemoglobin A (HbA): 97% HbA2: 2.5% An extremely small amount of <1% of total hemoglobin is fetal hemoglobin (HbF), which is a normal finding

Answer 29

Polycythemia: Hct in adults -- F > 48%, M > 52% Hgb in adults -- F >16.5; M >18.5 Chronic smokers and individuals with long-term COPD, long-time residents in high altitudes, or who had EPO treatment -- higher incidence of secondary polycythemia (as opposed to primary polycythemia vera)

Answer 30

a type of blood cancer. It causes your bone marrow to make too many red blood cells. These excess cells thicken your blood, slowing its flow, which may cause serious problems, such as blood clots.

Answer 31

sore and shiny red tongue; "beefy" tongue in folate, Vit B12, and iron deficiency

Answer 32

cravings for nonfoods such as ice or dirt, see in IDA

Answer 33

irritated skin or fissures at the corners of the mouth seen in IDA

Answer 34

spoon-shaped nails

Answer 35

red meat some beans (black beans) green leafy vegetables

Answer 36

Ferrous sulfate 325 mg PO TID

Answer 37

Between meals, better absorbed on empty stomach (but usually taken with meals d/t lower GI distress) Take with vit C or orange juice for better absorption Increase fiber and fluids; consider fiber supplements for constipation (psyllium, guar gum) Use cast iron cookware can increase iron source for vegans and vegetarians

Answer 38

- constipation -black-colored stools - stomach upset Take docusate sodium (colace), a stool softerner (not a laxative); take daily to soften stool

Answer 39

Avoid taking iron supplements at the same time as antacids (wait 4 hours before taking iron med to minimize binding), dairy products, quinolones, or tetracyclines (iron binds with these substances and is inactivated; take 2 hours before or after)

Answer 40

Hgb and Hct will normalize in 2 months but continue therapy until ferritin level increases to normal levels, which can take 3-6 months Check reticulocyte count 2 weeks after starting supplementation to check for treatment response (elevated reticulocytes indicates normal bone marrow)

Answer 41

All foods of animal origin meat, poultry, eggs, milk, and cheese

Answer 42

An autoimmune disorder caused by the destruction of parietal cells in the fundus (by antiparietal antibodies) → cessation of intrinsic factor production * Intrinsic factor is necessary to absorb vitamin B12 from the small intestine Etiologies - Dietary insufficiency - Stomach, small bowel, and pancreatic disorders (e.g., bariatric surgery, gastrectomy, alcoholics, small bowel diseases, strict vegans) - Infections - Severe dietary deficiencies of meats and milk (strict vegetarians) Exam tips: - Vitamin B12-deficiency anemia - Macrocytic/megaloblastic normochromic anemia - neurologic symptoms

Answer 43

Vitamin B12

Answer 44

- Tingling/numbness of hands and feet - Neuropathy starts in peripheral nerves and migrates centrally - Difficulty in walking (gross motor) - Difficulty in performing fine motor skills (hands) - Decrease reflexes in affected extremity - Motor tests: weak hand grip, decreased vibration sense, abnormal Romberg * 0 none, +1 sluggish, +2 normal reflex - Inflamed tongue and glossitis (not a specific finding because it is found in other disorders) - Pallor - Pale conjunctivae - glossitis - other signs of anemia

Answer 45

Check for both Vit B12 and folate level (*Both levels must always be checked together) - Decreased vitamin B12 <150 pg/mL - Antibody tests: ↑ Antiparietal and anti-intrinsic factor (IF) antibody - 24-hour urine test for methylmalonic acid (MMA): elevated - Homocysteine level: Elevated in vitamin B12 and folate deficiency - Schilling test: Not commonly used now → Positive if vitamin B12 (radioactive) excretion is normal after administration of intrinsic factor (but has poor excretion when given vitamin B12 alone) - Peripheral blood smear: Macrocytosis, hypersegmented neutrophils (>5 or 6 lobes), evidence of defective erythropoiesis - Check reticulocyte count and CBC ~2 weeks after starting supplementation to check fo treatment response (elevated reticulocytes, hemoglobin/hematocrit will increase)

Answer 46

- B12 injections 1,000 mcg (1mg) per week for 4 weeks - Then, monthly B12 injections for lifetime OR - Very high oral doses of B12 (1,000-2,000 mcg) by mouth daily Consider parental replacement for patients with neurologic changes and/or concerns regarding gastric absorption of vitamin B12

Answer 47

Caused by destruction of the pluripotent stem cells inside bone marrow and has multiple causes (e.g., radiation, adverse effects of a drug, viral infection). Bone marrow production slows or stops--call cell lines are affected → pancytopenia (leukopenia, anemia, thrombocytopenia)

Answer 48

Severe case of anemia - fatigue - weakness - skin and mucosa are pale color - Tachycardia - systolic flow murmur - Neutropenia (due to bacterial and fungal infection) - Thrombocytopenia (large bruising from trauma and bleeding) **Signs and symptoms depend on severity of aplastic anemia

Answer 49

Labs - CBC with diff - Platelet count - GOLD STANDARD: Bone marrow biopsy Treatment - Refer to hematologist ASAP. If septic → ED

Answer 50

1. Hereditary hemochromatosis -- a genetic disorder; the intestinal absorption of iron ↑ → total-body iron overload. Takes decades for significant iron deposition to occur 2. Genetic 3. - Chronic fatigue - skin hyperpigmentation (bronze) - swelling of the second and third metacarpal phalangeal joints (fingers) - generalized joint stiffness Iron overload → damages organs - liver: fibrosis, cirrhosis, liver cancer - heart: cardiomyopathy, heart failure, arrhythmias, death 4. - ↑ aspartate aminotransferase (AST) - ↑ alanine aminotransferase (ALT) - ↑ high serum ferritin > 500 ng/dL - ↑ high transferrin saturation 5. Therapeutic phlebotomy

Answer 51

GOLD Standard: Hemoglobin Electrophoresis - Every newborn be tested for sickle cell disease as part of the newborn screening tests after birth - Almost 1 out of every 500 African Americans in the US has sickle cell anemia.

Answer 52

- Expect to see increase starting at 1-2 weeks - back to normal within 4-8 weeks

Answer 53

Serum vitamin B12 levels may be normal in up to 5% of patients with vitamin B12 deficiency. Do not rely on vitamin B12 alone. Also check antibodies, urine MMA, and etc. Missing a vitamin B12 deficiency diagnosis can result in irreversible neurologic damage. Any patient complaining of neuropathy or who has dementia should have a vitamin B12 level check.

Answer 54

- Folate deficiency can result in damage to the DNA of RBCs → macrocytosis (MCV > 100 fl). Body's supply lasts 2-3 months. Does NOT cause neurologic damage. - Most common cause: inadequate dietary intake (elderly, infants, alcoholics, overcooking vegetables, low citrus intake) - Chronic alcoholism - Poor nutrition - Pregnancy (physiologic need) - Gluten enteropathy (malabsorption) - Drugs (long term) interfering with folate absorption: Phenytoin (Dilantin), trimethoprim-sulfa, metformin, methotrexate, sulfasalazine, zidovudine (Retrovir, azidothymidine)

Answer 55

1. Anemia sign/symptom s(tiredness, fatigue, pallor, reddened/sore tongue, or glossitis). - NO neuro signs - If severe anemia → tachycardia, palpitations, angina, or HF 2. CBC: ↓ Hgb, Hct, ↑ MCV Peripheral smear: macro-ovalocytes, hypersegmented neutrophils (>5-6 lobes) Folate level: ↓ low (>4 ng/mL, rules out folate deficiency) 3. Food sources: leafy green vegetables (kale, collard greens), grains, beans, liver

Answer 56

Correct primary cause. Improve diet. Stop overcooking vegetables. - Folic acid PO 1 - 5 mg/day. Treat until RBC indicators and anemia are normal. Women or childbearing age: it is recommended that all women who may become pregnant take a folic acid supplement, 400 mcg daily, at least 1 month (or longer) prior to conception to enhance normal fetal development and ↓ incidence of neural tube defects. Women who had a previous child with a neural tube defect require higher doses of folic acid, 4 mg daily.

Answer 57

A group genetic diseases that decrease red blood cell life span with increased lysis. Acute hemolysis of RBCs causes a drop in hemoglobin and hematocrit, reticulocytosis, and ↑ of indirect bilirubin (causes jaundice) Two types (for this exam) - Glucose-6-Phosphate Dehydrogenase Deficiency Anemia (G6PD) - Sickle Cell Anemia

Answer 58

1. An x-linked recessive genetic disease; M >F (XY chromosome, only one x chromosome; usually asymptomatic unless hemolysis occurs. G6PD protects RBCs against oxidative damage. Father (+G6PD) + Mother (Unaffected) = daughters 100% carriers, sons 100% not affected Father (unaffected) + Mother (carrier) = daughters 50% unaffected; 50% carrier, sons 50% unaffected; 50% will have +G6PD 2. 5 variants; most common enzymatic RBC disorder in humans. Males > females in African or Mediterranean descent, some are Asians Most females are unaffected carriers Infants are at higher risk of neonatal jaundice Hemolysis can be triggered by: - some drugs (primaquine, hydroxychloroquine, sulfa drugs, acetazolamide, dapsone) fava beans, red Egyptian and black henna, fever, acute infections, stress, etc. 3. 2-4 days after drug ingestion → hemolytic episode - acute onset of jaundice - yellow sclerae - pallor - fatigue - shortness of breath - tachycardia - dark urine - abrupt fall of hgb 3-4 g/dL 4. CBC, peripheral blood smear (can be mild and self-limiting or severe and life-threatening)

Answer 59

1. An x-linked recessive genetic disease; M >F (XY chromosome, only one x chromosome; usually asymptomatic unless hemolysis occurs. G6PD protects RBCs against oxidative damage. Father (+G6PD) + Mother (Unaffected) = daughters 100% carriers, sons 100% not affected Father (unaffected) + Mother (carrier) = daughters 50% unaffected; 50% carrier, sons 50% unaffected; 50% will have +G6PD 2. 5 variants; most common enzymatic RBC disorder in humans. Males > females in African or Mediterranean descent, some are Asians Most females are unaffected carriers Infants are at higher risk of neonatal jaundice Hemolysis can be triggered by: - some drugs (primaquine, hydroxychloroquine, sulfa drugs, acetazolamide, dapsone) fava beans, red Egyptian and black henna, fever, acute infections, stress, etc. 3. 2-4 days after drug ingestion → hemolytic episode - acute onset of jaundice - yellow sclerae - pallor - fatigue - shortness of breath - tachycardia - dark urine - abrupt fall of hgb 3-4 g/dL 4. CBC, peripheral blood smear (can be mild and self-limiting or severe and life-threatening)

Answer 60

1. A genetic hemolytic anemia (autosomal recessive); takes many forms ranging from sickle cell trait to various forms of full-blown disease. Have an increased resistance to malarial infection; higher risk of death from infection with encapsulated bacteria due to hyposplenia; patients with splenectomy (for other causes) are also at higher risk of death) 2. Life expectancy: Males 42 years; Females 48 years - In US, most commonly found in African Americans (1 in 500 have disease and >2 mil carry trait) - Higher prevalence in Africa, the Mediterranean, the Middle EAst, and some areas of India - Mean hgb: 8 - Shortened RBC lifespan: 17 vs 120 days - Hgb Electrophoresis: 80-100% HbS, ↑ HbF (no HbA) 3. Most as asymptomatic If full-blown sickle cell disease (SCD) → - extremely anemia - Frequent sickling episodes - Painful crises (of affected organ systems) - Necrosis of bones/skin (aseptic necrosis of femoral head, unexplained bone pain) - Renal/liver dysfunction - Priapism - Hemolytic episodes - Hyposplenism - Frequent infections 4. CBC (screening test) - GOLD STANDARD: Hgb Electrophoresis (HbS) 5. - Genetic counseling if both partners are at risk. If each parent has the train, 1/4 (25%) will have disease. Prenatal screening is available as early as 8-10 weeks gestation via chorionic villus sampling or amniocentesis - Black patients with normocytic anemia should be screened with peripheral smear, hemoglobin (Hb) solubility testing, and Hgb electrophoresis - Management by hematologists

Answer 61

1. microcytic and hypochromic RBCs, small and pale RBCs 2. macrocytes or macro-ovalocytes, larger than normal RBCs, or RBCs with enlarged cytoplasms

Hematologic Disorders Flashcards

(85 cards)