L19

Question 1

Diagnostic test for anaemia

Answer 1

1. CBC
2. Peripheral blood smear
3. Serum iron, ferritin (protein that store iron within cells), vitamin B9 and 12, erythropoietin (hormone that stimulate bone marrow to secrete RBC)
4. Schilling test to determine the ability to absorb vitamin B12
5. Stool for occult blood to rule out bleeding
6. Urinalysis and renal function to rule out chronic kidney disease
7. Bone marrow aspiration and biopsy

Question 2

Bone marrow aspiration and biopsy

Answer 2

1. Aspiration site: iliac crest
2. Preparation:
   - signed informed consent
   - psychological preparation of sharp pain
   - complications of bleeding and infection

Question 3

Microcytic hypoproliferative anaemia

Answer 3

• decreased size and amount of RBC
• causes:
  (i) bone marrow damage
  (ii) iron deficiency
  (iii) low stimulation for erythropoiesis (inflammation, metabolic defect, renal disease)

Question 4

Causes of Iron deficiency anaemia
(microcytic hypoproliferative anaemia)

Answer 4

1. Causes:
   - bleeding (perform OGD)
   - decreased iron intake from diet
   - decreased iron absorption (diarrhea, gastrectomy)
   - increased iron demand (pregnancy, menstruation, rapid body growth)

Question 5

Lab result of iron deficiency anaemia (microcytic hypoproliferative anaemia)

Answer 5

1. Microcytic: RBC smaller and paler
   –> decreased mean corpuscular volume
2. Hypochromic: decreased Hb –> decreased Hct
3. Elevated total iron-binding capacity (transferrin)
4. Low ferritin level (iron stores)

Question 6

Clinical manifestations of iron deficiency anaemia (microcytic hypoproliferative anaemia)

Answer 6

1. Common symptoms of anaemia:
   - pale, weakness, fatigue
   - dyspnea
   - palpitations, new and transient heart murmur
   - irritability
   - headache
2. Koilonychias (spoon-shaped nails)
3. Glottis (inflammation of the tongue)
4. Erosion at the corner of mouth

Question 7

Management for iron deficiency anaemia

Answer 7

1. Administer iron tablets
   - take on empty stomach if no GI disturbance
   - with vitamin C to improve absorption of non-hame iron
   - xxx take with milk, calcium and antacid
2. Possible side effects:
   - black-colored stool
   - constipation (encourage fluid and dietary fiber intake)

Question 8

Characteristics of thalassaemia

Answer 8

1. Hypochromia: decrease Hb content of erythrocytes
2. Microcytosis: smaller than normal erythrocytes
3. Haemolytic anaemia: premature destruction of RBCs

Question 9

Types of thalassemia

Answer 9

1. Alpha thalassemia:
   - caused by mutated chromosome 16
   - 1/4 chromosome 16 deletion –> alpha thalassemia silent carrier
   - 2/4 chromosome 16 deletion –> alpha thalassemia trait (minor)
   - 3/4 chromosome 16 deletion –> Thalassemia A (Hb H disease)
   –> splenomegaly, short-term transfusion
   - 4/4 chromosome 16 deletion –> Alpha thalassemia major (Hb Bart syndrome)
   –> no functioning alpha globin genes
   –> heart failure and oedema in fetus
   –> fetal
2. Beta thalassemia
   - one gene defect in chromosome 11 –> Beta thalassemia trait/minor
   –> small RBC, lighter in color
   - two gene defect in chromosome 11–>Beta thalassemia major (Cooley’s anaemia)
   –> abdominal swelling, hepatosplenomegaly
   –> common anaemia s/s
   –> growth retardation
   –> skeletal abnormalities
   –> jaundice, pallor
   –> irritability
   –> lifelong blood transfusion cuz Hb level 4-8 gm/dL
   –> treat with chelation therapy if iron overload (heart and liver failure, liver cirrhosis)

Question 10

Iron overload
(challenge of lifelong transfusion)

Answer 10

1. Assessment:
   - assess ferritin level every 3 months; maintain < 2500mg/dL
   –> Ferritin over 2500mg/dL will cause cardiac risk and mortality
   - assess function of cardiac, liver and endocrine
2. Clinical manifestations:
   dyspnea, chest pain and headache
3. Complications:
   (i) Cardiac: monitor heart failure by MRI
   –> iron deposit and low Hb level –> increased heart workload and affect electrical signals –> arrythmia
   (ii) Endocrine
   - hypothyroidism/hypoparathyroidism
   - adrenal insufficiency (decreased cortisol)
   - diabetics and glucose intolerance
   - delayed puberty/hypogonadism
   - growth hormone deficiency
   (iii) Liver
   - iron deposit –> liver fibrosis –> cirrhosis –> liver failure
   - chronic viral infection from hepatitis B and C
   - adhere to chelation therapy
   - monitor liver function every 3 months and hepatitis virology annually

Question 11

Iron removal therapy for lifelong transfusion

Answer 11

1. Deferoxamine (subcutaneous injection)
   - standard chelator
   - subcutaneously infusion over 10 hrs each night
   - 5-6 night each week
   - orange red urine colour
   - change infusion site daily
   - monitor compliance, complication and allergy
2. Deferiprone (orally)
   - use if other chelator not applicable
   - reverse cardiac toxicity of iron overload
   - side effect: erosion arthritis, neutropenia (low WBC level), mild increase creatine level
3. Deferasirox (orally)
   - new class of chelator
   - reverse cardiac toxicity of iron overload
   - take on empty stomach, dissolve in water or juice
   - monitor creatine and urine protein level
4. Folic acid therapy: 1-5mg daily to supplement marrow formation
5. Vitamin C: aid iron chelation therapy; do not administer after meal
6. Penicillin: prevent infection after splenectomy
7. Testosterone and estrogen replacement: for hypogonadism
8. Thyroxine: for low free T4 and TSH
9. Calcium supplement for osteoporosis for hypoparathyroidism
10. Vaccination for influenza and Hepatitis B

Question 12

Aplastic anemia

Answer 12

1. Lab findings:
   - normocytic: RBCs normal size, color and amount
   - low absolute reticulocyte (premature RBC)
   - increased serum iron level (reduced utilization)
   - pancytopenia (decreased RBC, WBC, and platelet)
   - Bone marrow aspiration
2. Symptoms relieved therapy:
   - blood transfusion
   - oxygen therapy

Question 13

Pernicious anaemia

Answer 13

Vitamin B12 deficiency

Question 14

Causes of haemolytic anaemia

Answer 14

1. Intrinsic:
   - thalassemia
   - sickle cell anaemia
   - G6PD deficiency
2. Extrinsic cause:
   - malaria
   - lead poisoning
   - drugs
   - blood transfusion
   - infection