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Basic Haematology > Anaemia & Bleeding Disorders > Flashcards

Anaemia & Bleeding Disorders Flashcards

1
Q

What is Anaemia?

A

This is defined as a reduction in the haemoglobin concentration of the blood below normal for age and sex

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2
Q

What is the normal values for haemoglobin for males and female?

A

Males- 135.0- 175.0 g/L
Female- 115- 155.0 g/L

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3
Q

What are the symptoms of anaemia?

A

shortness of breath, weakness, lethargy, palpitation and headaches, Old ppl- cardiac failure, angina pectoris or intermittent claudication, confusion.

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4
Q

What is Koilonychia?

A

Spoon nails (koilonychia) are soft nails that look scooped out.

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5
Q

What are examples of Microcytic Hypochromic Anaemias?

A

1.Iron deficiency Anaemia
2. Alpha- thalassemia
3. Beta- thalassemia
4.Lead poisining
5. Sideroblastic anaemia

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6
Q

What are the clinical features of Anemia?

A

Pallor
Fatigue
Lymphadenopathy( malignancy)
Scleral Icterus( jaundice in eyes)
Bony Tenderness( Bone marrow disorder)
Dyspnea
Hepatosplenomegaly
Bruising of skin

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7
Q

What is hypochromia?

A

Poor hemoglobinisation resulting in pale cells

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8
Q

What is the term Anisocytosis associated with?

A

Variation in size of Red blood cell

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9
Q

What is the term Poikilocytosis associated with?

A

Variation in shape of red blood cell
Poli- polygon - shape ( even tho its not polished lol)

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10
Q

What is the norma Red cell count in women?

A

4.8 ± 1.0 x 1012/l

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11
Q

What is the norma red cell count in men?

A

5.5 ± 1.0 x 1012/l

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12
Q

What is the normal red cell count in children (10-12 years)

A

4.7 ± 0.7 x 1012/l

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13
Q

What are types of microcytic anaemia?

A

T- Thalassemia
A- Anaemia of Chronic disorder
I- Iron deficiency anaemia
L- lead poisoning
S- Sideroblastic anaemia

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14
Q

What are the clinical features of iron deficiency anaemia?

A
  • General anemia features (fatigue, lethargy, conjunctival pallor)
  • Koilonychia ( brittle, ridged, spoon nails)
  • Pica ( unusual dietary cravings)
  • Atrophic glossitis aka Hunter glossitis( lose papillae on tongue - tongue looks smooth)
  • Weight loss (malabsorption, malignancy)
  • Angular stomatitis/cheilosis ( inflammation/ulceration around mouth)
    *Plummer-Vinson syndrome (triad of iron deficiency anemia, esophageal webs, and dysphagia).
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15
Q

What is the most common cause of Iron deficiency anaemia?

A

Chronic blood loss ( uterine or gastrointestinal tract)

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16
Q

What type of cells can be found in Iron-deficiency anaemia?

A

Target cells and pencil‐shaped poikilocytes

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17
Q

What is the treatment for Iron Deficiency anaemia?

A

Oral iron - Ferrous sulphate

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18
Q

What is the etiology for Anaemia of Chronic disease?

A

This is due to decreased release of iron from macrophages to plasma because of raised serum hepcidin levels and a decrease ferroportin

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19
Q

What is Sideroblastic Anaemia?

A

Sideroblastic anemia results from an inability to form heme molecules in the mitochondria.

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20
Q

What type of cells are present in Sideroblastic Anaemia?

A

Ring sideroblasts (Basophilic stippling ofRBCs)

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21
Q

Fill In the blanks.” Sideroblastic anaemia is diagnosed when _____or more of marrow erythroblasts are ring sideroblasts.”

A

Fifteen (15) %

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22
Q

What is the most common cause of Acquired Sideroblastic Anaemia in adults?

A

Chronic alcoholism- Alcohol damages the mitochondria which is required for haemolytic synthesis.

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23
Q

What are the causes of Siderobalstic Anaemia?

A
  • Defective δ-ALA-synthase gene on X chromosome (Inherited X-linked)
  • Vitamin B6 deficiency (EtOH, INH, chloramphenicol, linezolid)
  • Lead poisoning
  • Alcoholism
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24
Q

What are some symptoms of Lead poisoning ( Microcytic anaemia)?

A

Abdominal Pain
Foot drop
Wrist drop
Encephalopathy,
Learning disabilities and mental retardation(in kids)

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25
Q

What enzyme is there a build up of in Sideroblastic anaemia and Lead posoining ?

A

δ-ALA dehydrogenase

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26
Q

What kind of cells are found in Lead poisoning?

A

Basophilic stippling on the ordi­ nary (Romanowsky) stain

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27
Q

What is Thalassemia?

A

Thalassemias are a group of autosomal recessive hereditary disorders that arise from a quantitative defect in the production of Hb (decreased production of normal globin proteins). They are characterized by an imbalance in globin chain production caused by mutations in the α- or β-globin genes.

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28
Q

Where is the alpha gene located ?

A

On chromosome 16

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29
Q

Where is the beta gene located?

A

On chromosome 11

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30
Q

True or False? The cis deletion of both α genes on the same chromosome (−/− α/α) is associated with West African population.

A

FALSE!! It is located with South Asian population
( Cis- China- Asia)

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31
Q

True or False? The trans deletion of one α gene in each copy of chromosome 16 (α/− α/−) is associated with West African

A

TRUE!!
There are trans people in Africa.

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32
Q

What is the main Haemoglobin present in 4-α chain ( Haemaglobin Barts disease?

A

Hb B - (γ4)

33
Q

What is the clinical outcome of Haemoglobin Barts disease (4-α chain deletion)?

A

Hydrops fetalis ( death of foetus in utero)

34
Q

A deletion of 3-α chains is known as what disease?

A

Hb H disease?

35
Q

What is the clinical outcome of Hb H disease

A

Moderate to severe microcytic hypochromic anemia

36
Q

What type of haemoglobin is produced in Hb H disease?

A

Hb H (β4)

37
Q

What is the treatment for patients with Hb H disease?

A

Splenectomy

38
Q

What is the name of the genes that control alpha production?

A

(ATR‐16) - on Chromosome 16
(ATR‐X) - on Chromosome X
A defect in these can cause mental retardation

39
Q

True or False? Alpha Thalassemia is not a disorder of Ineffective Erythropoeisis while Beta Thalassemia is a disorder of Ineffective Erythropoeisis.

A

TRUE!!!

40
Q

A clinical findings of white opacities is found in which type of anaemia?

A

Microcytic - Lead Poisoning

41
Q

How can diagnosis of Beta Thalassemia Minor be confirmed?

A

A raised Hb A2 (>3.5%)

42
Q

What is another name for Beta Thalassemia Major?

A

Cooley Anaemia - 2 defective alleles

43
Q

What cells are present in Beta Thalassemia?

A

Target cells and basophilic stippling

44
Q

How can Beta Thalassemia major be diagnosed?

A

High performance liquid chromatography (HPLC)

45
Q

What are the clinical findings in Beta Thalassemia major?

A

*Absence of HbA production
*Significant increase in HbF levels
* Increased HbA2 levels
*Splenomegaly may be present.
*Extramedullary haemopoiesis
* Thalassemic facies (looks like a chipmunk)
* Hair on end appearance ( crew cut)

46
Q

In what type of anaemia are golf- ball cells present?

A

Hb H disease ( 3 alpha chain deletion - Alpha Thalassemia)

47
Q

What is the treatment for Beta Thalassemia major?

A

*Regular blood transfusions- but be careful of IRON overload.
* Iron chelation therapy ( to treat iron overload)
*Splenectomy ( only after 6 years)
* Allogenic stem cell transplant
* Folic acid( if diet is poor)
* Immunization - hep b&c

48
Q

Why is a cell described as megaloblastic?

A

Because of impairment of DNA synthesis results in arrest of the cell cycle, cells will have unbalanced cell growth with dissociation between the maturity of their nucleus and cytoplasm.

49
Q

What is the main histologic feature of Megalobastic anaemia?

A

Hypersegmented neutrophils.

50
Q

What is Haemoglobin Lepore disease?

A

This is an abnormal haemoglobin caused by unequal cross­ ing‐over of the β and δ genes to produce a polypeptide chain consisting of the δ chain at its amino end and β chain at its car­boxyl end.

51
Q

What type of Thalessemia does not require regular blood transfusions?

A

Thalassaemia Intermedia

52
Q

True or False? Hb H disease (three‐gene deletion α‐thalassae­ mia) is a type of thalassaemia intermedia without iron overload or extramedullary haemopoiesis.

A

TRUE!!!

53
Q

What is δβ‐Thalassaemia?

A

This involves failure of production of both β and δ chains. Foetal haemoglobin production is increased to 5–20% in the hetero­zygous state.

54
Q

What are the clinical findings in Vitamin B12 deficiency?

A
  • Smooth, beefy red tongue ( Glossitis)
    *Angular Cheilosis
    *Purpura
    *Widespread melanin pigmentation
    *Peripheral neuropathy- loss of myelin sheath
    *Dementia, psychosis, personality change
    *weakness of the legs, arms, and trunk (with tingling)
55
Q

How can one confirm diagnosis of Vitamin b12 deficincy?

A
  • Schillings test
  • Diet history
  • Serum gastrin ( increased in pernicious anaemia)
    *IF, parietal cell antibodies
56
Q

What substances are increased in Vitamin B12 deficiency?

A

Homocysteine and methylmalonic acid
- methylmalonic acid is ONLY elevated in cobalamin deficiency.

57
Q

How can one diagnose Folate deficiency?

A

Diet history
Anti‐transglutaminase and endomysial antibodies
Duodenal biopsy Underlying disease
Tests for intestinal malabsorption

58
Q

What are some causes of Folate deficiency?

A

*Alcoholics are at risk
*Impaired absorption—intestinal malabsorption occurs in patients with celiac or Crohn disease.
*Increased requirement—such as occurs in pregnancy, lactation, and infancy.
*Medications—phenytoin,ethanol,trimethoprim-sulfamethoxazole,sulfasalazine,methotrexatecan
reduce absorption.

59
Q

What is Orotic Aciduria?

A

Orotic aciduria is an autosomal recessive disorder involving a defect in the de novo pyrimidine pathway enzyme uridine 5′-monophosphate (UMP) synthase

60
Q

A clinical finding of Triphalangeal thumbs are associated with which disease?

A

Diamond-Blackfan anemia (DBA)

61
Q

What types of cells are seen in Liver disease? ( non megaloblastic anaemia)

A

Echinocytes (burr cells) &target cells

62
Q

What is Thrombocytopenia?

A

This is decrease in the number of circulating platelets in the blood (< 150,000/mm3)

63
Q

True or False ? In von Willebrand disease , the BT and partial thromboplastin time (PTT) will be decreased.

A

FALSE!! It will be INCREASED.

64
Q

In what disorder does a patient lack lack the GpIb receptor on their cell surface?

A

Bernard-Soulier syndrome

65
Q

In what disorder does a patient lack the GpIIb/IIIa receptor?

A

Glanzmann disease

GlanzmAnn “ GpIII A”

66
Q

What is the normal PTT range?

A

25-40 seconds

67
Q

What is the normal PT range?

A

11-15 seconds

68
Q

How is Internationalized Monitored Ratio calculated(INR)?

A

Patient PT / Control PT

69
Q

What is the therapeutic INR range?

A

2-4

70
Q

What happens to Warfarin Therapy , if the patient goes below or above the therapeutic INR?

A

If patient scores BELOW 2, then they are prone to a clot development and Warfarin dosage should be INCREASED!!

If patent scores ABOVE 4, then the Warfarin dose is too high and patient might be prone to bleeding- Warfarin dosage should be DECREASED!!

71
Q

What kind of cells are found in patients with Chronic Kidney disease?

A

Burr Cells

72
Q

True or False? In Pyruvate Kinase deficiency there is an Increase in 2,3 DPG.

A

TRUE!!

73
Q

What cells are found in Sickle-Cell Anaemia?

A

Sickled, Target, Howell–Jolly bodies

74
Q

How are aged cells recognised?

A

Increased cell density
Glycation of Haemoglobin
Deamidation of membrane proteins

75
Q

True or False? CD47 is Phagocytic.

A

TRUE!!

76
Q

True or False? CD47 is found in older red blood cells.

A

FALSE!! It is found in YOUNGER red blood cells!!

77
Q

True or False? Critical levels of CD47 can cause phagocytosis.

A

TRUE!!

78
Q

Fill in the blanks. “Phosphatidyl serine(PS) is _____”

A

Pro-phagocyytic
Ageing INCREASES exposure.

79
Q

What are two methods used for estimating lifespan of RBC?

A

Random- Labelling
Cohort

Basic Haematology (6 decks)

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