SBA

Case 1
Maria Dimitrious, a 9 month old girl, is brought into your general practice by
her mother and grandmother. They have just emigrated to Australia from
Greece. Maria presents with a one month history of poor feeding, failure to
thrive and irritability. On examination her weight is on the 3rd percentile for
age, she is pale, has marked hepatosplenomegaly and a hyperdynamic
circulation. A full blood count reveals the following results:
Indices

Marias Results

Normal range for this age

Hb

*45 g/L

95 140 g/L

MCV

*63 fl

70 85 fl

Haematocrit

*14%

28 45%

WCC

16 x 109/L

5 17 x 109 /L

Platelet Count

409 x 109/L

150 600 x109/L

Question 1.1
If Maria has thalassaemia major as you suspect, her blood film will show:
A) Hypochromic red cells
B) Macrocytic red cells
C) Spherocytic red cells
D) Hyperchromic red cells

Question 1.2
Antenatal diagnosis of b-thalassaemia major is most commonly confirmed by:
A) A full blood count on fetal blood
B) Haemoglobin electrophoresis on fetal blood
C) DNA molecular tests on a chorionic villus sample
D) a/b globin synthesis ratios on chorionic villus sample

Question 1.3
Which of the following investigations should be performed to confirm a suspected
diagnosis of thalassaemia major in Maria?
A) Polymerase chain reaction
B) Haemoglobin electrophoresis
C) Restriction fragment length polymorphism analysis
D) Karyotype analysis

Question 1.4
In beta thalassaemia major there is:
A) Inadequate production of normal alpha chains
B) Normal production of abnormal alpha chains
C) Inadequate production of normal beta chains
D) Normal production of abnormal beta chains

Case 2
Lazika Merken, a ten month old girl, is brought into your general practice by
her parents. The family have just migrated to Australia from east coast of
Turkey. Lazika has a six week history of poor feeding. On examination her
weight is on the 3rd percentile for age, she is pale, has marked
hepatosplenomegaly and a hyperdynamic circulation.
Full blood count findings include:
Hb 47 g/L

(normal range for this age 95 - 140 g/L)

MCV 68fl

(normal range for this age 70 - 85 fl)

Question 2.1
If Lazika has thalassaemia major, her blood film will show:
A) Macrocytic red cells
B) Spherocytic red cells
C) Hypochromic red cells
D) Hyperchromic red cells

Question 2.2
In -thalassaemia major there is:
A) Normal production of abnormal beta chains
B) Inadequate production of normal beta chains
C) Inadequate production of normal alpha chains
D) Normal production of abnormal alpha chains

Question 2.3
Antenatal diagnosis of -thalassaemia major is most commonly made by performing:
A) A full blood count on fetal blood
B) Haemoglobin electrophoresis on fetal blood
C) / globin synthesis ratios on a chorionic villus sample
D) DNA molecular techniques on a chorionic villus sample

Case 3
Oliver Lee is a 5 year old boy who has been brought in by his parents who
thought he was often listless and tired. The family is of South-East Asian
origin. You are the family doctor. You think Oliver looks pale and you
perform a series of blood tests.
The blood film showed hypochromic microcytosis, with target cells, tear
drop poikilocytes and basophilic stippling. You think thalassaemia is
possible.
The following results were found:
HbA2

3.5 % (normal range 1.5 - 3.5%)

HbF

96.5 % (normal range < 1%)

HbEPG

no abnormal bands

HbH bodies

not detected

Question 3.1
Which of the following is correct concerning haemoglobin?
A) It features an oxygen binding, copper-chelated porphyrin-ring functional group
B) It is composed of several globin molecules each containing a single haem moiety
C) It may be formed by co-existing beta and delta chains
D) Has increased affinity for oxygen in the presence of 2,3-diphosphoglycerate (DPG)

Question 3.2
A shift to the left of the normal position of the haemoglobin-oxygen dissociation
curve of blood (with partial pressure of oxygen (PO2) as the abscissa and oxygen
saturation on the ordinate):
A) Tends to reduce the oxygen content of circulating blood at a given PO2
B) Tends to impair delivery of oxygen at normal tissue PO2 levels
C) Is typically found in anaemia
D) Occurs when the blood pH decreases

Question 3.3
HbF:
A) Is made up of 22 tetramers
B) Has a higher oxygen affinity than adult haemoglobin
C) Forms the major fraction of total haemoglobin during late infancy
D) Is the only haemoglobin present in the first two trimesters of gestation

Question 3.4
The basic defect seen in patients with -thalassaemia major is:
A) Excess production of a structurally normal -globin chain
B) Excess production of a structurally abnormal -globin chain
C) Normal production of a structurally abnormal -globin chain
D) Inadequate production of a structurally normal -globin chain

Question 3.5
Antenatal diagnosis of -thalassaemia major is most commonly made by performing:
A) A full blood count on fetal blood
B) Haemoglobin electrophoresis on fetal blood
C) DNA molecular techniques on a chorionic villus sample
D) / globin synthesis ratios on chorionic villus sample

Case 4
Alexa Dimitriou, a 9 month old girl, is brought into your general practice by
her mother and grandmother. They have just migrated to Australia from
Greece. She presents with a one month history of poor feeding, failure to
thrive and irritability. On examination her weight is on the 3rd percentile for
age, she is pale, has marked hepatosplenomegaly and a hyperdynamic
circulation.
Full blood count findings include:
Hb 45 g/L

(normal range for this age 95 - 140 g/L)

MCV 68fl

(normal range for this age 70 - 85 fl)

You consider a diagnosis of thalassaemia.

Question 4.1
With respect to the liver, which one of the following statements is correct?
A) The left and right anatomical lobes are demarcated on the basis of their blood
supply
B) The hepatic vein drains to the porta hepatis
C) The ligamentum teres connects the liver to the umbilicus
D) The normal adult liver lies entirely under cover of the lower thoracic cage

Question 4.2
In chronic anaemia:
A) The cardiac output is reduced
B) The symptoms will be greater than in acute anaemia
C) Red cell 2,3-diphosphoglycerate is increased
D) The heart rate is decreased

Question 4.3
If Alexa has thalassaemia major as you suspect, her blood film will show:
A) Hypochromic red cells
B) Macrocytic red cells
C) Spherocytic red cells
D) Hyperchromic red cells

Question 4.4
In -thalassaemia major there is:
A) Inadequate production of normal alpha chains
B) Normal production of abnormal alpha chains
C) Inadequate production of normal beta chains
D) Normal production of abnormal beta chains

Question 4.5
Antenatal diagnosis of -thalassaemia major is most commonly made by performing:
A) A full blood count on fetal blood
B) Haemoglobin electrophoresis on fetal blood
C) DNA molecular techniques on a chorionic villus sample
D) / globin synthesis ratios on chorionic villus sample

Case 5
A Cambodian woman is admitted to hospital in premature labour at 32
weeks gestation with her first pregnancy. Following development of fetal
distress she undergoes an emergency Caesarian Section. Her baby son is
pale, and jaundiced, and has marked hepatosplenomegaly and ascites. FBC
demonstrates a haemoglobin of 60 g/L (NR 140 - 225 g/L). Blood film
demonstrates hypochromic red cells, target cells, polychromasia and
nucleated red cells. Haemoglobin analysis shows mainly HbBarts (4) with
a small amount of HbH (4); HbA, A2 and F are absent.
Question 5.1
The diagnosis is most likely to be:
A) Haemoglobin H disease
B) Hydrops fetalis
C) Homozygous sickle cell anaemia
D) Congenital methaemoglobulinaemia

Question 5.2
Which of the following is correct? -thalassaemia:
A) Results most commonly from gene deletions
B) Results most commonly from point mutations
C) Can result from an acquired gene deletion
D) Is an X linked recessive disorder

Question 5.3
In the developed world, most patients who have homozygous or compound
heterozygous forms of -thalassaemia die as a result of:
A) Anaemia
B) Infections, including HIV, hepatitis C and bacterial infections
C) Transfusion-related iron overload
D) Bone marrow failure

Question 5.4
Which of the following conditions does NOT present with a microcytic hypochromic
anaemia?
A) Sideroblastic anaemia
B) -thalassaemia trait
C) -thalassaemia major
D) Hereditary spherocytosis

Question 5.5
When fully constituted with iron and porphyrins, what is the maximal number of
molecules of oxygen that can be carried by one molecule of haemoglobin?
A) None
B) One
C) Two
D) Four

Question 5.6
A shift to the left of the normal position of the haemoglobin-oxygen dissociation
curve of blood (with partial pressure of oxygen (PO2) as the abscissa and oxygen
saturation on the ordinate):
A) Tends to reduce the oxygen content of circulating blood at a given PO2
B) Tends to impair delivery of oxygen at normal tissue PO2 levels
C) Is typically found in anaemia
D) Occurs when the blood pH decreases

Case 6

Question 6.1

Question 6.2

Question 6.3

Question 6.4

10

11

Case 7

Question 7.1

Question 7.2

12

Question 7.3

13