Red cell disease Flashcards

(55 cards)

1
Q

What is the meaning of HCT, MCV, MCH, MCHC, RDW respectively?

A

HCT (haematocrit): proportion of red cells after centrifugation
MCV (mean corpuscular volume)
MCH (Mean corpuscular Hb)
MCHC (Mean corpuscular Hb conc.)
RDW (Red cell distribution width)

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2
Q

RR for MCV

A

80~100 fL

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3
Q

Which disease leads to elevated MCHC?

A

hereditary spherocytosis

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4
Q

DDx for nucleated RBCs

A

BM stress / damage

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5
Q

DDx for pencil cell

A

IDA

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6
Q

DDx for target cells (4)

A

(Increase membrane to cell volume ratio)
1. IDA
2. Thalassaemia
3. Sickle cell disease, HbC, HbE
4. Liver disease

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7
Q

DDx for spherocytes (2)

A
  1. Hereditary spherocytosis
  2. Warm AIHA
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8
Q

DDx for elliptocyte

A

Hereditary elliptocytosis

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9
Q

DDx for bite cells

A

G6PD deficiency

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10
Q

DDx for schistocytes

A

MAHA

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11
Q

DDx for golf ball cells

A

HbH disease

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12
Q

DDx for red cell agglutination

A

cold AIHA

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13
Q

DDx for rouleaux formation

A

multiple myeloma

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14
Q

DDx for basophilic stippling (3)

A

(Aggregates of ribosomes or fragments of ribosomal RNA)

  1. Lead poisoning
  2. Megaloblastic anaemia
  3. Thalassaemia
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15
Q

DDx for Howell-Jolly bodies (4)

A
  1. Megaloblastic anaemia
  2. Thalassaemia
  3. Sickle cell disease
  4. Splenectomy / Hyposplenism
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16
Q

Which red cell disease causes koilonychia?

A

IDA

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17
Q

Which red cell disease causes leg ulcers?

A

Sickle cell disease

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18
Q

Microcytic hypochromic anaemia DDx

A
  1. IDA
  2. Anaemia of chronic disease
  3. Sideroblastic anaemia
  4. Thalassaemia
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19
Q

Normochromic normocytic anaemia DDx (6)

A
  • ACD
  • Renal failure
  • Aplastic anaemia
  • Acute blood loss
  • Haemolytic anaemia
  • Mixed deficiencies
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20
Q

Congenital syndrome for pure red cell dysplasia

A

Diamond-blackfan syndrome

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21
Q

Microcytic hypochromic red cells on blood film

A

size < nucleus of lymphocytes
central pallor >1/2 of red cell diameter

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22
Q

Iron profile and ferritin for IDA, ACD, sideroblastic anaemia, and thalassaemia respectively

A

(Serum Fe, TIBC, TSAT, Ferritin)
IDA: ↓ , ↑ , ↓ , ↓
ACD: ↓ , ↓ / N, ↓ , ↑ / N
sideroblastic anaemia: ↑ , N , N / ↑ , N / ↑
thalassaemia: ↑ , N , ↑ , ↑

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23
Q

Effect of hepcidin

A

↓ ferroportin –> ↓ Fe absorption & release

24
Q

DDx of iron deficiency anaemia

A
  • chronic blood loss (GI, uterine)
  • ↑ demands (pregnancy, EPO therapy)
  • malabsorption
  • Plummer-Vinson syndrome
25
DDx and pathogenesis of sideroblastic anaemia
Congenital (ALA-S mutation) --> defective protoporphyrin --> ⨉ haem Acquired (lead poisoning) --> inhibit haem & globin synthesis
26
Treatment for sideroblastic anaemia caused by ALA-S mutation
pyridoxine
27
Pathogenesis of megaloblastic anaemia
defective DNA synthesis --> nuclear-cytoplasmic maturation asynchrony
28
DDx of vitamin B12 deficiency
(1) Nutritional: strict vegetarian (2) Malabsorption a. Stomach: pernicious anaemia, gastrectomy b. Pancreas c. Small intestine: blind loops, Crohn's disease, ileal resection / bypass (3) Drugs: N2O anaethesia, metformin, PPI, H2 antagonists
29
Diagnosis of pernicious anaemia
anti-IF Ab
30
DDx for folate deficiency
1. Nutritional 2. Malabsorption: coliac disease 3. Excess utilisation: pregnancy, haemolytic anaemia, CA 4. Drugs: valproate, phenytoin, methotrexate
31
Which neurological syndrome is irreversible after B12 deficiency?
Subacute combined degeneration of spinal cord
32
Supplement for B12 and folate deficiency (caution)
B12: Hydroxocobalamin (S/E: hypoK ; monitor K after treatment) Folate: Folic acid (not given alone unless r/o B12 deficiency)
33
Pathogenesis of hereditary spherocytosis
defected protein --> loss of vertical interaction between cytoskeleton and lipid bilayer --> loss of biconcave shape ==> spherocytes --> ↑ fragility --> ↓ lifespan
34
Diagnosis of hereditary spherocytes (2)
1. Flow cytometry for EMA binding to RBC 2. direct Coombs' test
35
Pathogenesis of G6PD deficiency
↓ reduction of NADP into NADPH --> ↓ GSH --> ↑ RBC susceptibility against oxidative stress
36
Diagnosis of G6PD deficiency
G6PD assay
37
Aetiology (4) and pathogenesis of warm AIHA
Aetiology: - Idiopathic - Autoimmune disease - Lymphoproliferative diseases - Drugs: methyldopa [37 °C] IgG coats RBC --> recognised by macrophages --> RBC becomes spherical --> extravascular haemolysis
38
Diagnosis and treatment (6) of warm AIHA
Dx: DCT anti-IgG +ve Tx: - treat underlying cause - prednisolone - rituximab - splenectomy - folate - blood transfusion
39
Aetiology (4) and pathogenesis of cold AIHA
Aetiology: - idiopathic - infection (Mycoplasma pneumoniae) - lymphoproliferative diseases - Paroxysmal cold haemoglobinuria Pathogenesis: [4°C] IgM binds on I antigen on RBC --> fix complement quickly --> intravascular haemolysis
40
Diagnosis (2) and treatment (4) of cold AIHA
Dx: - red cell agglutination in cold - DCT: anti-C3d +ve Tx: - keep warm - treat underlying cause - rituximab - chemotherapy
41
DDx of red cell fragmentation syndrome
1. cardiac haemolysis 2. AVM 3. Microangiopathic haemolytic anaemia
42
When does the main switch from HbF to HbA occur after birth?
3~6 months
43
Molecular pathogenesis of α thalassaemia 1. which is MC in HK? 2. which produce elongated but unstable chains? 3. which are associated with mental retardation?
1. SEA deletion 2. Hb Constant Spring, Hb Quong Sze 3. ATR-16, ATR-X
44
Investigations for HbH disease
PBS: target cells, >1 golf ball cells in new methylene blue stain Hb electrophoresis: HbH
45
Pathogenesis of β thalassaemia
point mutation --> reduced production / inactivation of β chains --> precipitation of excess α chains in BM --> ineffective erythropoiesis
46
Which disease shows hair-on-end appearance on X-ray?
β thalassaemia
47
Investigations for β thalassaemia (3)
PBS: target cells, Howell-Jolly bodies, basophilic stippling Hb electrophoresis: ⨉ HbA, major HbF DNA analysis
48
Management of β thalassaemia (4)
regular transfusion allogeneic SCT folic acid vitamin D, bisphosphonates
49
Pathogenesis of sickle cell disease
sickle gene: [position 6 of β chain] glutamic acid => valine low oxygen level --> sickle Hb polymerise into long fibres --> RBCs sickle --> block microcirculations --> organ infarct
50
3 types of crisis in sickle cell anaemia
vaso-occlusive crisis aplastic crisis haemolytic crisis
51
Investigations of sickle cell disease (3)
PBS: sickle cells, target cells, Howell-Jolly bodies Screening test for sickling (test with deoxygenation) Hb electrophoresis: HbS peak, ↑ HbF, ⨉ HbA
52
Management for sickle cell disease
!! Transfusion is contraindicated (↓ O2 —> sickling) Prophylaxis [crisis] rest, warmth, rehydration Hydroxyurea (↑ HbF)
53
Which haemoglobinopathy combined with β trait will give thalassaemia major?
HbE
54
PBS findings of megaloblastic anaemia
oval macrocytes, Howell-Jolly bodies hypersegmented neutrophils basophilic stippling
55
Diagnosis of β-thalassaemia trait
HbA2 > 3.5%