Anaemia/blood disorders: Flashcards

1
Q

Anaemia:

A

Definition: Reduction in the total number of circulating erythrocytes or a decrease in the quality or quantity of hemoglobin.

  • Decrease in Haemoglobin
  • RBC
  • Haematocrit (% red cell volume))
  • Symptoms of anemia based on HCT
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2
Q

Causes of Anaemia:

A
  • Blood loss
  • Impaired/defective/decreased erythrocyte production
  • Altered haemoglobin synthesis (Fe def, thalassemia)
  • Altered DNA synthesis (B12, folate)
  • Increased erythrocyte destruction (EPO prolongs life of RBCs)
  • Physiological anaemia of pregnancy – due to dilution of RBC’s – plasma volume increases 50% but RBC mass only 25%
  • Stem Cell dysfunction ( aplastic anemia)
  • Bone marrow infiltration (cancer)
  • Renal disease (Kidneys make EPO, therefore renal disease - EPO)
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3
Q

Microcytic (low MCV)

A
  • Fe deficiency
  • Thalassemia
  • Sideroblastic
  • Chronic Disease
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4
Q

Macrocytic (large MCV)

A
  • Vitamin B12
  • Folate
  • Drugs (chemo, methotrexate, AZT)
  • Alcohol (suppresses BM)
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5
Q

Normocytic

A
  • Blood loss

- Haemolysis

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6
Q

Iron (fe) deficiency

A
  • Most common anaemia worldwide
  • Particularly affects women
  • Impairs oxygen carriage: Fe in haemoglobin binds to oxygen
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7
Q

Signs of Iron deficiency:

A
  • Fatigue, SOB, lethargy, Pale ear lobes and palms
  • impaired capillary circulation produces brittle, spoon - shaped nails
  • sore tongue with atrophy of papillae
  • Angular stomatitis (cracks at corner of mouth) due to altered epithelium
  • Koilonychia
  • Glossitis
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8
Q

Signs of Iron deficiency:

A
  • Difficult swallowing due to web of mucous between pharynx and oesophagus.
  • lesion may progress to malignancy
  • Enzyme changes - gastritis, neuromuscular problems, irritability, headache, vasomotor problems.
  • mental confusion, memory loss
  • increased infections
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9
Q

Pernicious anaemia (vitamin B12)

A
  • B12 from animal products in diet, also GIT micro-organisms.
  • body stores last many years: depletion takes a long time
  • Genetic autoimmune factors may be involves - parietal cell antibodies, type A chronic atrophic gastritis.
  • Also, gastrectomy, pancreatitis.
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10
Q

Pernicious anaemia (vitamin B12) patho:

A
  • Defective secretion of intrinsic factor in stomach
  • If cannot bind B12 and protect it
  • Vitamin B12 cannot be absorbed in ileum
  • Malabsoption of B12 —- deficiency
  • DNA synthesis impaired
  • Defective red and white cell development in bone marrow —- megaloblasts, but Hb levels normal.
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11
Q

Pernicious anaemia (vitamin B12) patho :

A
  • Neurological symptoms due to abnormal fatty acid production
  • Myelin degenerates in spinal cord
  • if untreated, B12 deficiency progresses to death from heart failure.
  • increased risk of gastric carcinoma
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12
Q

Pernicious anaemia (vitamin B12) signs and symptoms :

A
  • gradual onset, severe at presentation
  • infections, GIT upset, kidney, heart problems (RS failure)
  • Mood swings, memory loss, psychosis.
  • Classic signs of anemia, e.g fatigue, paraesthesias (tingling, sensation/numbness), difficulty walking.
  • anorexia, abdominal pain, weight loss, beefy tongue, lemon yellow skin.
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13
Q

Macrocytic Anaemia: Folic acid deficiency anaemia

A

Folic acid important not only for RBC development but also for proper closure of the neural tube.

  • when the neural tube does not close completely, an NTD develops.
  • A NTD is an opening in the spinal cord or brain that occurs very early in human development (2nd week of pregnancy)
  • Spina bifida is an example of a NTD.
  • deficiency most common in later pregnancy but effects are most significant during the first trimester
  • treatment — eat folic acid rich foods
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14
Q

Congenital Anemias

A

Thalassemia
ALPHA
BETA

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15
Q

Features of thalassaemia

A
  • Normal adult Hb– 2X alpha (a) and 2X beta (b) chains
  • Thalassaemia: group of inherited disorders characterised by
    reduced or absent synthesis of either
    a or b globin chains
  • Unequal quantity of chains: excess of non
    -deficient chains – ineffective red cell production
  • Extra chains aggregate & precipitate within cells
  • Cells prone to haemolysis or Destruction in the bone marrow or spleen
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16
Q

Thalassemia:

A

Inherited anemia caused by decreased
synthetic rate of hemoglobin α or β
chains
two forms: Alpha and Beta thalassemia

17
Q

Beta Thalassemia:

A

Pathogenesis

  • point mutations in 1 or 2 beta genes
  • decreased hemoglobin production
  • hemolysis of red cells in marrow and bloo
18
Q

Beta Thalassemia - Clinical Features

A
Heterozygous
-- mild anemia
Homozygous (Cooley anemia)
-- severe anemia in infancy
-- facial and cranial bone enlargement
-- splenomegaly
-- secondary hemochromatosis
19
Q

Beta Thalassemia

A

Pathology

  • microcytic anemia
  • target cells
  • basophilic stippling
  • elevated Hb A2 (α 2 δ 2) in heterozygotes
  • elevated Hb F (α2γ2) in homozygotes
20
Q

Alpha Thalassemia:

A

1 - None = Silent carrier
2 - Mild = α-thal trait
3 - Moderate = Hemoglobin H disease (β4)
4 - Severe = Hemoglobin Barts disease (γ4)