Congential Anaemia

Question 1

name some membrane problems that lead to anaemia

Answer 1

> hereditary spherocytosis
hereditary pyropoikilocytosis
SEA ovalcytosis
hereditary elliptocytosis

Question 2

how does hereditary spherocytosis present?

Answer 2

> spherical red cells
> anaemia
> jaundice
> splenomegaly
> pigment gallstones

Question 3

what is the treatment for hereditary spherocytosis?

Answer 3

> transfusion
folic acid
splenectomy

Question 4

name some defects in haemoglobin structure leading to anaemia

Answer 4

> sickle cell

> thalassemia’s

Question 5

true or false

in sickle cell there are 2 alpha chains and 2 gamma chains

Answer 5

false

2 alpha and 2 beta sickle cell chains

Question 6

what does deoxygenation or dehydration lead to in sickle cell?

Answer 6

> endothelial activation
promotion of inflammation
dysregulation of vasomotor tone by vasodilator mediators

all this creates vaso-occlusion

Question 7

what is the presentation of sickle cell?

Answer 7

> painful crisis
> chest crisis
> stroke
> hypersplenism
> chronic haemolytic anaemia
> sequestration crisis

Question 8

what is the management for a painful sickle crisis?

Answer 8

> analgesia (within 30 mins-affective in 1 hour)
hydration
O2
antibiotics

Question 9

what is the management of sickle cells disease?

Answer 9

> life long prophylaxis (immunisation)
> blood transfusion
> hydroxycarbamide
> bone marrow transplant if severe
> gene therapy

Question 10

what are the different types of thalassaemia?

Answer 10

> homozygous alpha 0: incompatible with life
beta thalassaemia major: no beta chains
non-transfusion dependent thalassaemia
thalassaemia minor: carrier trait

Question 11

how does thalassaemia present?

Answer 11

> bone deformities
splenomegaly
expansion of in-affective bone marrow
growth retardation

Question 12

what is the management of thalassaemia?

Answer 12

> bone marrow transplant as cure
chronic transfusion support (carful of iron overload)
iron chelation therapy: subcutaneous desferrioxamine (oral)

Question 13

name some enzyme disorders that lead to anaemia

Answer 13

> G6PD deficiency

> reduced kinase efficiency

Question 14

what does G6PD do?

Answer 14

protects red cell proteins from oxidative damage

Question 15

true or false

G6PD deficiency is x linked

Answer 15

true

Question 16

what is the presentation of G6PD deficiency?

Answer 16

> cells have blisters
> splenomegaly
> neonatal jaundice
> intravascular haemolysis
> pigmented gallstones
> haemoglobinuria

Question 17

what can trigger G6PD deficiency?

Answer 17

> infection
> acute illness (DKA)
> favism
> drugs
 - antimalarials
 - antibacterials
 - aspirin
 - sulphonamides

Question 18

what is the pathology of reduced kinase deficiency?

Answer 18

decrease in ATP and 2,3DPG leading to rigid cells