Haemogolobinopathies Flashcards
1
Q
what is the pathology of sickle cells
A
- mutation within globin gene from GAG to GTG which produceuces a sub for of valine for glutamic acid at the 6th codon of beta globin chain
2
Q
is sickle cell
a)autosomal dom
b)autosomal rec
A
b
3
Q
how do you investigate for sickle cell
A
- neonatal screening
- blood film- sickle cells
- FBC -low haemoglob (60-80) with high reticulocytes
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4
Q
How to treat sickle cell
A
- Acute - IV fluids, Analgesics, O2
- hydroxycarbinomide (inc HaemF) + folate
5
Q
what is thallassemia
A
imbalance of alpha and beta chains
6
Q
is thalassemia
a)autosomal dom
b)autosomal rec
A
b
7
Q
Pathophysiology of thalassaemia
A
- RBCs are more fragile and break down more easily
- Spleen collect all the destroyed RBCs, resulting in splenomegaly
- Bone marrow expands to produce extra RBCs -> susceptibility to fractures, pronounced forehead and molar eminence
8
Q
Describe alpha thalassemia
A
Alpha thalassaemia
- Less common
- 4 gene deletions on chromosome 16
- Associated with HbH
- Can cause death in utero if severe
9
Q
Describe betal thalassemia
A
- More common
- 2 gene mutations in chromosome 2
- Normal Hb isoforms, just depletion of beta chains
10
Q
clinical presentation of thalassemia
A
- Failure to thrive
- Hepatospenomegaly
- Gallstones
- Chipmunk face
11
Q
how is thallassemia investigated
A
- FBC + blood film (- Hypochromic (pale) RBCs Target cells, Microcytic anaemia with high reticulocytes
- Hb electrophoresis - diagnostic
- Xr - “hair on end” skull
12
Q
how is thalassemia treated
A
- Regular transfusion
- Iron chelation
- Splenectomy
- Ascorbic acid (vit C)
- Bone marrow transplant (curative)
13
Q
beta Thallessemia is a mutation on which chromosome
A
11
14
Q
alpha thallessemia is a mutation on which chomosome
A
16
15
Q
malaria is caused by which parasites
A
- Plasmodium falciparum
- Plasmodium ovale
- Plasmodium vivax
- Plasmodium malariae
