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1. With regards to haemoglobinopathies, which of the following is FALSE?

a)alpha thalassaemia are caused by deletions in the alpha globin gene


b)beta thalassaemia is not clinically apparent until 6 months of age
c)HbS forms as a result of a point mutation in codon 7 of the beta globin gene
d)sickle cell disease is the commonest genetic disorder in the UK
e)they are blood cell disorders which cause haemolytic anaemia
2. Caused by deletion of all four alpha globin genes
a)beta thalassaemia major
b)Hb Barts hydrops fetails
c)Diamond-Blackfan anaemia
d)alpha thalassaemia trait
e)hereditary spherocytosis
3. Inheritance for HbS from one parent and a normal beta globin gene from another
a)Sickle cell disease
b)Sickle beta thalassaemia
c)Sickle Cyprositis
d)Sickle trait
e)Sickle cell anaemia
4. Which of the following is a type of red cell aplasia (cause of anaemia)?
a)Glucose-6-phosphate dehydrogenase deficiency
b)Haemolytic disease of the newborn
c)Folic acid deficiency
d)Hereditary spherocytosis
e)Diamond Blackfan anaemia
5. With regards to herediatary spherocytosis, which of the following is FALSE?
a)usually has autosomal dominant inheritance
b)caused by mutations in genes for proteins such as spectrin, ankrin or band 3
c)red blood cells are destroyed in the spleen
d)occurs in 1 in 5000 births in caucasians
e)aplastic crises are common
6. Children from which area are most likely to develop beta thalassaemia
a)United Kingdom
b)Mediterranean
c)Africa
d)North America
e)Gulf States
7. Deletion of one or two alpha globin genes
a)hereditary spherocytosis
b)Hb Barts hydrops fetails
c)Diamond-Blackfan anaemia
d)alpha thalassaemia major
e)alpha thalassaemia trait
8. Which of the following is a red cell enzyme disorder (cause of anaemia)?
a)Folic acid deficiency
b)Diamond Blackfan anaemia
c)Glucose-6-phosphate dehydrogenase deficiency
d)Haemolytic disease of the newborn
e)Hereditary spherocytosis
9. Rare autosomal recessive disorder characterised by bone marrow failure together with signs of
pancreatic exocrine failure and skeletalk abnormalities
a)Fanconi anaemia
b)Diamond-Blackfan anaemia
c)hereditary spherocytosis
d)G6PD deficiency
e)Schwachman-Diamond syndrome
10. Anaemia in an infant aged 1-12 months can be defines as
a)< 14g/dL
b)< 10 g/dL
c)< 8 g/dL
d)< 6 g/dL
e)< 12 g/dL
11. Which of the following is a cause of ineffective erythroporesis (cause of anaemia)?
a)Folic acid deficiency
b)Hereditary spherocytosis
c)Haemolytic disease of the newborn
d)Diamond Blackfan anaemia
e)Glucose-6-phosphate dehydrogenase deficiency
12. Involved in management of haemophilia A
a)Recombinant FV
b)Recombinant FIX
c)Recombinant FVIII
d)Recombinant FIV
e)Recombinant FVII
13. Usually associated with parvovirus B19 infection in those with hereditary spherocytosis
a)mild to moderate splenomegaly
b)aplastic crisis
c)gallstones
d)jaundice
e)anaemia
14. Anaemia in a child aged 1-12 years can be defined as
a)< 11 g/dL
b)< 5 g/dL
c)< 7 g/dL
d)< 15g/dL
e)< 13 g/dL
15. Which of the following is NOT a main cause of anaemia in premature babies?
a)infection with parvovirus B19
b)Frequent blood sampling in hospital
c)Iron and folic acid deficiency (after 2-3 months)
d)Inadequate erythropoetin production
e)Reduced red cell lifespan
16. Characterised by FIX deficiency
a)Diamond-Blackfan anaemia
b)G6PD deficiency
c)haemophilia B
d)haemophilia A
e)Fanconi anaemia
17. The first globin chain produced in humans
a)Gamma-globin
b)Delta-globin
c)Beta-globin
d)Alpha-globin
e)Epsilon-globin

18. The only cure for sickle cell disease


a)Hydroxyurea
b)Spenectomy
c)Exchange transfusion
d)Progressive desensitization
e)Bone marrow transplant
19. The diagnostic clue is that there is anaemia, the reticulocyte count is low and the bilirubin is normal
a)congenital red cell aplasia
b)alpha thalassaemia major
c)haemolytic disease of the newborn
d)hereditary spherocytosis
e)G6PD deficiency
20. A condition resulting from overstimulation of the blood- clotting mechanisms in response to disease
or injury. Results in generalized blood coagulation and excessive consumption of coagulation factors.
a)Disseminated Intravascular coagulation
b)Haemophilia A
c)Haemophilia B
d)von Wilebrand's disease
e)Immune thrombocytopaenia
21. The diagnostic clue is a positive direct anti-globulin (Coombs) test
a)congenital red cell aplasia
b)hereditary spherocytosis
c)haemolytic disease of the newborn
d)G6PD deficiency
e)alpha thalassaemia major
22. Autosomal recessive aplastic anaemia and an increased predisposition to malignancy. Also causes
mental retardation, poor growth, skeletal abnormalities, and kidneys of an unusual shape or in an unusual
position. Usually diagnosed between five and ten years.
a)Fanconi anaemia
b)hereditary spherocytosis
c)Diamond-Blackfan anaemia
d)G6PD deficiency
e)Schwachman-Diamond syndrome
23. Which of the following globin chains is not normaly found in adult blood?
a)beta 2
b)they all are
c)gamma 2
d)delta 2
e)alpha 2
24. With regards to G6PD deficiency, which of the following is FALSE?
a)affects the pentose phosphate pathway
b)females with this condition seldom survive
c)associated with neonatal jaundice
d)acute haemolysis can be precipitated by broad beans
e)X-linked
25. Anaemia due to antibodies against blood group antigens
a)hereditary spherocytosis
b)congenital red cell aplasia
c)G6PD deficiency
d)haemolytic disease of the newborn
e)alpha thalassaemia major

26. The most important diagnostic feature for beta thalassaemia trait
a)anaemia
b)raised HbF
c)reduced MCH
d)reduced MCV
e)raised HbA2
27. The process of production of blood cells and platelets
a)haemotological
b)haemopoesis
c)haemolysis
d)haemothrombosis
e)haemotolysis
28. The commonest cause of thrombocytopaenia in childhood
a)Disseminated Intravascular coagulation
b)Haemophilia A
c)Immune thrombocytopaenia
d)von Wilebrand's disease
e)Haemophilia B
29. Patients are homozygous for HbS, they have no HbA
a)Sickle Cyprositis
b)Sickle cell disease
c)Sickle trait
d)Sickle cell anaemia
e)Sickle beta thalassaemia
30. No longer used to investigate platelet disorders as it is unreliable
a)D-dimers
b)prothrombin time
c)activated partial thromboplastin time
d)full blood count and blood film
e)bleeding time
31. The commonest red cell enzymopathy
a)G6PD deficiency
b)beta thalassaemia
c)Hereditary spherocytosis
d)Diamond Blackfan anaemia
e)alpha thalassaemia
32. The severiy of haemophilia wuith a Factor VIII:C ratio of < 1% is
a)borderline
b)severe
c)moderate
d)not applicable
e)mild
33. Which of the following is an immune response cause of anaemia?
a)Diamond Blackfan anaemia
b)Hereditary spherocytosis
c)Glucose-6-phosphate dehydrogenase deficiency
d)Folic acid deficiency
e)Haemolytic disease of the newborn
34. Which of the following should be avioded in patients with haemophilia
A) Intramuscular injections
b)NSAIDs
C) Aspirin
d) B&C
e)A, B & C
35. What is the name for the neonatal screening test for sickle cell disease?
a)Guthrie
b)Coombs
c)Fields
d)BCG
e)Tuberin
36. A term used ot describe the eating of non-food materials
a)pica
b)kira
c)picu
d)rika
e)pingu
37. Severe thrombocytopaenia is a platelet count
a)> 60 x 10^9 / L
b)<150 x 10^9 / L
c)< 100 x 10^9 / L
d)< 20 x 10^9 / L
e)< 50 x 10^9 / L
38. Affected children inherit HbS from one parent and a beta thalassaemia trait form the other
a)Sickle trait
b)Sickle cell disease
c)Sickle Cyprositis
d)Sickle cell anaemia
e)Sickle beta thalassaemia
39. Where would you be least to find thalassaemia in the indigenous population?
a)Spain
b)Japan
c)India
d)Sub saharan Africa
e)Iraq
40. Which of the following is NOT suggestive of haemolytic anaemia?
a)Raised reticulocyte count
b)Increased erythryopoesis in bone marrow
c)Increased urinary urobilinogen
d)Unconjugated bilirubinaemia
e)Absent red cell precursosrs in bone marrow
41. Which of the following complications of sickle cell disease is least common in children?
a)leg ulcers
b)cognitive problems
c)short stature
d)psychosocial problems
e)delayed puberty
42. In the neonate, levels of all clotting factors except factor ___ and fibrinogen are lower in term infants
at birth
a)V
b)II
c)VII
d)X
e)III

43. Which of the following is NOT characteristic of von Willebrand's disease?


a)PT Normal
b)APTT raised or normal
c)vWF Ag lowered
d)RiCoF (activity) raised
e)Ristocetin-induced platelet aggregation abnormal
44. An inherited disorder of the blood that is characterized by episodes of spontaneous bleeding
a)Folic acid deficiency
b)Diamond Blackfan anaemia
c)Von Willebrands disease
d)Glucose-6-phosphate dehydrogenase deficiency
e)Hereditary spherocytosis
45. Affected children inherit HbS from one parent and HbC from another, they have no HbA
a)Sickle cell disease
b)Sickle trait
c)Sickle Cyprositis
d)Sickle beta thalassaemia
e)Sickle cell anaemia
46. A persistent and usually painful erection of the penis that may be a clinical manifestation of sickle cell
disease
a)Hyperoophism
b)Cavernosis
c)Priapism
d)Nepotosis
e)Corpoenis
47. Which of the following is a red cell membrane disorder (cause of anaemia)?
a)Folic acid deficiency
b)Hereditary spherocytosis
c)Diamond Blackfan anaemia
d)Glucose-6-phosphate dehydrogenase deficiency
e)Haemolytic disease of the newborn
48. Which of the following is NOT part of the management of sickle cell disease?
a)avoiding exposue to cold
b)Intense exercise regieme
c)once daily folic acid
d)twice daily penicillin throughout childhood
e)full immunization
49. Which of the following is NOT a clinical feature of beta thalassaemia major?
a)hepatosplenomegaly
b)failure to thrive
c)maxillary undergrowth
d)skull bossing
e)severe anaemia and jaundice form 3-6 months of age
50. The most common inherited form of aplastic anaemia
a)G6PD deficiency
b)Fanconi anaemia
c)Schwachman-Diamond syndrome
d)Diamond-Blackfan anaemia
e)hereditary spherocytosis
51. May allow mild haemophilia A to be managed without the use of Blood products
a)Fibrinogen
b)Warfarin
c)ITP
d)Vitamin K
e)Desmopressin
52. Iron absorption is decreated by consumption of
a)Oily fish
b)fresh fruit
c)Tea
d)vegetables
e)Vitamin C
53. In a healthy term infant the average blood volume is
a)10ml/kg
b)40ml/kg
c)160ml/kg
d)80ml/kg
e)20ml/kg
54. Hb concentration at birth is normally
a)> 10 g/dL
b)> 8 g/dL
c)> 6 g/dL
d)> 12 g/dL
e)> 14g/dL
55. Also known as bone marrow failure
a)aplastic anaemia
b)alpha thalassaemia major
c)haemolytic disease of the newborn
d)hereditary spherocytosis
e)G6PD deficiency
56. Characterised by FVIII deficiency
a)haemophilia A
b)haemophilia B
c)Fanconi anaemia
d)Diamond-Blackfan anaemia
e)G6PD deficiency
57. Iron is almost entirely absorbed in the
a)Jejunum
b)Ileum
c)Duodenum
d)Colon
e)Stomach
58. Which of the following is NOT suggestive of red cell aplasia?
a)Normal bilirubin
b)Increased erythryopoesis in boine marrow
c)Low reticulocyte count and low Hb
d)Absent red cell precursors in bone marrow
e)Negative Coombs test
59. A 1 year old infant requires an iron intake of about
a)15 mg/day
b)10 mg/day
c)6 mg/day
d)8 mg/day
e)12 mg/day