Anaemia & Bleeding Disorders

Question 1

What is Anaemia?

Answer 1

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

Question 2

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

Answer 2

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

Question 3

What are the symptoms of anaemia?

Answer 3

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

Question 4

What is Koilonychia?

Answer 4

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

Question 5

What are examples of Microcytic Hypochromic Anaemias?

Answer 5

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

Question 6

What are the clinical features of Anemia?

Answer 6

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

Question 7

What is hypochromia?

Answer 7

Poor hemoglobinisation resulting in pale cells

Question 8

What is the term Anisocytosis associated with?

Answer 8

Variation in size of Red blood cell

Question 9

What is the term Poikilocytosis associated with?

Answer 9

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

Question 10

What is the norma Red cell count in women?

Answer 10

4.8 ± 1.0 x 1012/l

Question 11

What is the norma red cell count in men?

Answer 11

5.5 ± 1.0 x 1012/l

Question 12

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

Answer 12

4.7 ± 0.7 x 1012/l

Question 13

What are types of microcytic anaemia?

Answer 13

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

Question 14

What are the clinical features of iron deficiency anaemia?

Answer 14

• 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).

Question 15

What is the most common cause of Iron deficiency anaemia?

Answer 15

Chronic blood loss ( uterine or gastrointestinal tract)

Question 16

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

Answer 16

Target cells and pencil‐shaped poikilocytes

Question 17

What is the treatment for Iron Deficiency anaemia?

Answer 17

Oral iron - Ferrous sulphate

Question 18

What is the etiology for Anaemia of Chronic disease?

Answer 18

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

Question 19

What is Sideroblastic Anaemia?

Answer 19

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

Question 20

What type of cells are present in Sideroblastic Anaemia?

Answer 20

Ring sideroblasts (Basophilic stippling ofRBCs)

Question 21

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

Answer 21

Fifteen (15) %

Question 22

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

Answer 22

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

Question 23

What are the causes of Siderobalstic Anaemia?

Answer 23

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

Question 24

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

Answer 24

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

Question 25

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

Answer 25

δ-ALA dehydrogenase

Question 26

What kind of cells are found in Lead poisoning?

Answer 26

Basophilic stippling on the ordi­ nary (Romanowsky) stain

Question 27

What is Thalassemia?

Answer 27

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.

Question 28

Where is the alpha gene located ?

Answer 28

On chromosome 16

Question 29

Where is the beta gene located?

Answer 29

On chromosome 11

Question 30

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

Answer 30

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

Question 31

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

Answer 31

TRUE!! There are trans people in Africa.

Question 32

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

Answer 32

Hb B - (γ4)

Question 33

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

Answer 33

Hydrops fetalis ( death of foetus in utero)

Question 34

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

Answer 34

Hb H disease?

Question 35

What is the clinical outcome of Hb H disease

Answer 35

Moderate to severe microcytic hypochromic anemia

Question 36

What type of haemoglobin is produced in Hb H disease?

Answer 36

Hb H (β4)

Question 37

What is the treatment for patients with Hb H disease?

Answer 37

Splenectomy

Question 38

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

Answer 38

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

Question 39

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

Answer 39

TRUE!!!

Question 40

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

Answer 40

Microcytic - Lead Poisoning

Question 41

How can diagnosis of Beta Thalassemia Minor be confirmed?

Answer 41

A raised Hb A2 (>3.5%)

Question 42

What is another name for Beta Thalassemia Major?

Answer 42

Cooley Anaemia - 2 defective alleles

Question 43

What cells are present in Beta Thalassemia?

Answer 43

Target cells and basophilic stippling

Question 44

How can Beta Thalassemia major be diagnosed?

Answer 44

High performance liquid chromatography (HPLC)

Question 45

What are the clinical findings in Beta Thalassemia major?

Answer 45

*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)

Question 46

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

Answer 46

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

Question 47

What is the treatment for Beta Thalassemia major?

Answer 47

*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

Question 48

Why is a cell described as megaloblastic?

Answer 48

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.

Question 49

What is the main histologic feature of Megalobastic anaemia?

Answer 49

Hypersegmented neutrophils.

Question 50

What is Haemoglobin Lepore disease?

Answer 50

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.

Question 51

What type of Thalessemia does not require regular blood transfusions?

Answer 51

Thalassaemia Intermedia

Question 52

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

Answer 52

TRUE!!!

Question 53

What is δβ‐Thalassaemia?

Answer 53

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

Question 54

What are the clinical findings in Vitamin B12 deficiency?

Answer 54

* 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)

Question 55

How can one confirm diagnosis of Vitamin b12 deficincy?

Answer 55

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

Question 56

What substances are increased in Vitamin B12 deficiency?

Answer 56

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

Question 57

How can one diagnose Folate deficiency?

Answer 57

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

Question 58

What are some causes of Folate deficiency?

Answer 58

*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.

Question 59

What is Orotic Aciduria?

Answer 59

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

Question 60

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

Answer 60

Diamond-Blackfan anemia (DBA)

Question 61

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

Answer 61

Echinocytes (burr cells) &target cells

Question 62

What is Thrombocytopenia?

Answer 62

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

Question 63

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

Answer 63

FALSE!! It will be INCREASED.

Question 64

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

Answer 64

Bernard-Soulier syndrome

Question 65

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

Answer 65

Glanzmann disease GlanzmAnn " GpIII A"

Question 66

What is the normal PTT range?

Answer 66

25-40 seconds

Question 67

What is the normal PT range?

Answer 67

11-15 seconds

Question 68

How is Internationalized Monitored Ratio calculated(INR)?

Answer 68

Patient PT / Control PT

Question 69

What is the therapeutic INR range?

Answer 69

2-4

Question 70

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

Answer 70

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!!

Question 71

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

Answer 71

Burr Cells

Question 72

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

Answer 72

TRUE!!

Question 73

What cells are found in Sickle-Cell Anaemia?

Answer 73

Sickled, Target, Howell–Jolly bodies

Question 74

How are aged cells recognised?

Answer 74

Increased cell density Glycation of Haemoglobin Deamidation of membrane proteins

Question 75

True or False? CD47 is Phagocytic.

Answer 75

TRUE!!

Question 76

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

Answer 76

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

Question 77

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

Answer 77

TRUE!!

Question 78

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

Answer 78

Pro-phagocyytic Ageing INCREASES exposure.

Question 79

What are two methods used for estimating lifespan of RBC?

Answer 79

Random- Labelling Cohort