Small paeds topics

Question 1

What are the two most common severe inherited coagulation disorders?

Answer 1

Haemophilia A

Haemophilia B

Question 2

What type of inhertiance are haemophilias?

Answer 2

X linked recessive

Question 3

Which is more common haemophilia A or B?

Answer 3

A - 5x more common

Question 4

What is the cause of haemophilia a?

Answer 4

Defective synthesis of VIII

Question 5

What is the main symptom of haemophilia?

Answer 5

BLEEDING

Question 6

What is bleeding into muscles called?

Answer 6

Haemarthroses

Question 7

What clotting time will be longer in haeophilia a/b?

Answer 7

APTT

Question 8

What is the management for haemophilia a/b?

Answer 8

Give the factor they are short of
A=8
B=9

Question 9

What is the complication of giving clotting factors as treatment?

Answer 9

Antibodies to factors

Question 10

Which drug can be used to treat mild haemophilia A?

Answer 10

Desmopressin

Question 11

What is the cause haemophilia b?

Answer 11

Deficiency of clotting factor 9

Question 12

What is VWF disease?

Answer 12

VWF factor (released by activated thrombin) preents degradation of factor 8 complex from degradation. Decreased VWF = decreased clotting ability

Question 13

What is the standard treatment of children with IDA?

Answer 13

5mg/kg/day of ferrous suplhate + vitamin C (improves absortption)

Question 14

What type of anaemia do you get in IDA?

Answer 14

Microcytic anaemia
Hypochromic
low MCV
low MCH

Question 15

What happens to reticulocytes in IDA?

Answer 15

Decreased (rise in a few days of treatment)

Question 16

What investigation would show you sickle cell disease?

Answer 16

Blood film

Question 17

What investigation would show G6PD deficiency and pyruvate kinase deficiency?

Answer 17

Red cell enzyme studies

Question 18

When do most children become symptomatic in IDA?

Answer 18

Hb drops below 70g/L

Question 19

What investigation would you nee to do to diagnose a thallasaemia?

Answer 19

Haemoglobin electrophoresis

Question 20

Explain how Iron deficiency leads to anaemia?

Answer 20

Decreased production of red blood cells due to ineffective erythropoiesis

Question 21

Main 3 causes for IDA?

Answer 21

Inadequate intake
Malabsorption
Blood loss

Question 22

What type of anaemia does thalassaemia cause?

Answer 22

Microcytic

Question 23

What type of anaemia does thalassaemia cause?

Answer 23

Microcytic

Question 24

What are the different severity of B thalassamia?

Answer 24

All affected individuals a have a severe reduction in B globin

B major - HbA (a2b2) cannot be made because abnormal B globin gene

B intermdia - B globin mutation allows a small amount of HbA and/or HbF to be produced

Question 25

What happens as the result B thalassaemia?

Answer 25

1) Severe anaemia within 3/12 (transfusion dependent) 2) Extra medullary haemopoeisis (prevented by regular blood transfusions) --> patinets develop hepatosplenomegaly and bone marrow explansion 3) bone marrow expansion can lead to maxillary overgrowth and skull bossing

Question 26

What chrmosome is affected for thalassaemia B?

Answer 26

11

Question 27

What is the treatment for B thalassaemia?

Answer 27

Transfusions life long (Bone marrow transplant - cure, need a HLA identical sibling)

Question 28

What are the complications with transfusions for B thaassameia?

Answer 28

1) IRON DEPOSITION 2) antibody formation - 10% - aallo-antibodies to transfused red cells in the patient make finding compatible blood difficult 3) venous access

Question 29

What is a 'cure treatment' for B thalassaemia?

Answer 29

Bone marrow transplantation

Question 30

Can you test prenatally for B thalassaemia?

Answer 30

Yes in CVS - for at risk people

Question 31

Who is sickle cell disease more common in?

Answer 31

African and carribean

Question 32

What is sickle cell disease?

Answer 32

You get HbS instead of HbA. This makes the RBC sickle shaped

Question 33

What is sickle cell trait?

Answer 33

one HbS from one patent and one normal B globin gene

Question 34

What are the features of sickle cells?

Answer 34

Low life span Can be trapped in the microcirculation resulting in blood vessel occlusion and thus iscahemia in an organ or bone (the trapping is exacerbated by low oxygen tension, dehydration and cold)

Question 35

How do homozygotes present?

Answer 35

Recurrent episodes of haemolysis crises (from infancy)

Question 36

What organisms do sickle cell sufferers have an increased susceptibility to?

Answer 36

Encapsulated organisms - pneumococci and haemophilus influenzae Also increased of incidence of osteomyelitis caused by salmonella and otehr organisms