pt 8

Question 1

What is the main pathological consequence of anaemia?

Answer 1

Tissue hypoxia

Question 2

Name two non-specific symptoms of anaemia.

Answer 2

Fatigue, headaches, faintness

Question 3

What sign on physical exam is specific for anaemia?

Answer 3

Pallor (e.g., conjunctiva)

Question 4

What three routine lab tests diagnose anaemia?

Answer 4

↓ RBC count, ↓ Hb, ↓ PCV

Question 5

What does anisocytosis on a blood film indicate?

Answer 5

Variation in RBC size

Question 6

What is poikilocytosis?

Answer 6

Variation in RBC shape

Question 7

What is anisochromasia?

Answer 7

Variation in RBC hemoglobinization

Question 8

What are two broad causes of anaemia?

Answer 8

↓ production (e.g., bone marrow failure, haematinic deficiency) or ↑ loss/destruction (haemorrhage, haemolysis)

Question 9

What RBC indices derive from PCV and RBC count?

Answer 9

MCV (cell size) and MCH (Hb per cell)

Question 10

How do you calculate the mean cell volume (MCV)?

Answer 10

PCV (l/L) ÷ RBC count (×10¹²/L)

Question 11

What does the mean cell hemoglobin concentration (MCHC) represent?

Answer 11

Hb concentration per unit volume of RBCs

Question 12

In iron-deficiency anaemia, describe RBC appearance.

Answer 12

Microcytic, hypochromic

Question 13

Where is dietary iron absorbed and what is required?

Answer 13

Duodenum/stomach; gastric HCl for Fe³⁺→Fe²⁺ reduction

Question 14

How is iron stored and transported?

Answer 14

Stored as ferritin/haemosiderin; transported by transferrin

Question 15

List four causes of iron-deficiency anaemia.

Answer 15

increased demand (pregnancy), chronic blood loss, poor diet, malabsorption

Question 16

How is iron-deficiency anaemia treated and monitored?

Answer 16

Find/treat cause, oral iron replacement; monitor reticulocyte count & Hb

Question 17

Describe megaloblastic anaemia morphology.

Answer 17

Macrocytic oval RBCs, hypersegmented neutrophils, Howell–Jolly bodies

Question 18

What two deficiencies cause megaloblastic anaemia?

Answer 18

Vitamin B₁₂ and folate deficiency

Question 19

What absorption defect characterizes pernicious anaemia?

Answer 19

Lack of intrinsic factor → B₁₂ malabsorption in terminal ileum

Question 20

Name three causes of folate deficiency.

Answer 20

Poor diet/overcooking, malabsorption (coeliac, sprue), ↑ utilisation (pregnancy, haemolysis)

Question 21

What defines anaemia of chronic disease (ACD)?

Answer 21

Anaemia associated with ↓ RBC proliferation and impaired iron utilization in chronic infections, immune disorders, or neoplasms

Question 22

Name three chronic conditions commonly causing ACD.

Answer 22

Chronic microbial infections (e.g., osteomyelitis), chronic immune disorders (e.g., rheumatoid arthritis), and malignancies (e.g., Hodgkin lymphoma)

Question 23

What cytokine-driven mechanisms underlie ACD?

Answer 23

↓ EPO production, ↑ hepcidin synthesis → ↓ iron release from stores → ↓ RBC production

Question 24

What are the typical laboratory features of ACD?

Answer 24

↓ Serum iron & TIBC, ↑ marrow storage iron; RBCs normocytic/normochromic or microcytic/hypochromic

Question 25

How can ACD be distinguished from pure iron-deficiency anaemia?

Answer 25

Soluble transferrin receptor is normal in ACD but elevated in iron deficiency

Question 26

What are the clinical features and treatment of ACD?

Answer 26

Mild anaemia (Hb ≥8 g/dL) with symptoms of underlying disease; correct underlying cause ± EPO therapy

Question 27

How is aplastic anaemia defined?

Answer 27

Pancytopenia (↓ RBCs, neutrophils, platelets) with hypocellular, fatty bone marrow

Question 28

List major acquired causes of aplastic anaemia.

Answer 28

Idiopathic, immune-mediated, alkylating agents/benzene, chloramphenicol, irradiation, hepatitis, CMV infection

Question 29

What are the clinical and laboratory features of aplastic anaemia?

Answer 29

Anaemia, infections, bleeding; pancytopenia with low/absent reticulocytes; bone marrow biopsy shows hypocellularity & fat spaces

Question 30

How is aplastic anaemia managed?

Answer 30

Withdraw offending agent, supportive care (infection control, transfusions), immunosuppression, or bone-marrow transplant

Question 31

What two broad categories of haemoglobin abnormalities exist?

Answer 31

Abnormal globin chain structure (point mutations) and imbalanced globin chain production (thalassaemias)

Question 32

What single mutation causes sickle cell disease?

Answer 32

β-globin gene point mutation (GAG→GTG), Glu→Val at position 6 → HbS (α₂β₂ˢ)

Question 33

Describe sickle cell pathogenesis.

Answer 33

HbS polymerizes at low O₂ → rigid “sickled” RBCs → shortened survival & vaso-occlusion → infarction & haemolysis

Question 34

What are key clinical features of sickle cell disease?

Answer 34

Vaso-occlusive crises (acute bone pain), chronic haemolysis (anaemia 6–8 g/dL), precipitated by infection, dehydration, hypoxia

Question 35

How is sickle cell disease investigated and managed?

Answer 35

Hb 6–8 g/dL, retics 10–20%, blood film shows sickled cells; manage with avoidance of triggers, supportive care, folate, transfusions, hydroxycarbamide

Question 36

What underlies thalassaemia?

Answer 36

Quantitative defects in α or β globin synthesis → imbalanced chain production → precipitation, ineffective erythropoiesis, haemolysis

Question 37

Contrast β-thalassaemia major vs. minor.

Answer 37

Major: severe anaemia in infancy, splenomegaly, marrow expansion; Minor: mild or asymptomatic microcytic anaemia

Question 38

Outline α-thalassaemia spectrum.

Answer 38

Ranges from Hb Bart’s hydrops fetalis (four α deletions) to clinically mild (one deletion), depending on α-chain loss

Question 39

How are thalassaemias diagnosed?

Answer 39

Microcytic hypochromic anaemia, ↑ reticulocytes & nucleated RBCs; confirm by Hb electrophoresis (↑ HbF, ↓ HbA)

Question 40

What is G6PD deficiency?

Answer 40

X-linked RBC enzyme defect → ↓ NADPH & GSH → vulnerability to oxidative damage and haemolysis (100 M affected)

Question 41

Which G6PD variants differ in severity?

Answer 41

Type B/A⁺ (normal), African A⁻ (mild, older-cell deficiency), Mediterranean (severe in all RBC ages)

Question 42

Describe G6PD deficiency pathogenesis.

Answer 42

G6PD deficiency → ↓ glutathione reductase cycle → inability to detoxify ROS → membrane damage → acute haemolysis

Question 43

What triggers haemolysis in G6PD deficiency?

Answer 43

Oxidant stress from fava beans, sulphonamides, quinine, infection, or other oxidative drugs/foods

Question 44

How is G6PD deficiency diagnosed?

Answer 44

Blood count normal between attacks; during attack, blood film shows “bite” & blister cells, ↑ bilirubin; confirm by G6PD assay

Question 45

What is the management for G6PD deficiency?

Answer 45

Avoid known oxidative triggers; transfuse if needed; treat underlying infection

Question 46

What are the five varieties of leukocytes?

Answer 46

Neutrophils, eosinophils, basophils, lymphocytes, monocytes

Question 47

Which leukocytes are phagocytic, and which mediate adaptive immunity?

Answer 47

Granulocytes (neutrophils, eosinophils, basophils) and monocytes are phagocytic; lymphocytes carry out cell-mediated and antibody-mediated responses

Question 48

What is the normal total white cell count?

Answer 48

4.0–11 × 10⁹ /L

Question 49

What percentage and absolute range do neutrophils normally occupy?

Answer 49

45–75% of WBCs, 2.8–7.5 × 10⁹ /L

Question 50

What are normal ranges for lymphocytes, monocytes, eosinophils, basophils, and platelets?

Answer 50

* Lymphocytes: 20–40% (1.5–3.5 × 10⁹/L) * Monocytes: 2–8% (0.2–0.8 × 10⁹/L) * Eosinophils: 1–4% (0.04–0.4 × 10⁹/L) * Basophils: 0.4–1% (0.01–0.1 × 10⁹/L) * Platelets: 150–400 × 10⁹/L