Haemoglobinopathies Flashcards
Adult Hb consists of what?
2 alpha
2 beta chains
Foetal Hb consists of what?
2 alpha
2 gamma chains
Which ethnicity is sickle cell disease common in?
Afro-Caribbeans
What is sickle cell disease?
Mutation of the beta globin gene resulting in a HbS variant
How is sickle cell disease inherited?
Autosomal recessive disease
How would a sickle cell patient’s RBCs appear on a blood film?
Sickle shaped
How would you manage sickle cell crisis? (5)
Analgesia Oxygen to achieve target stats IV fluids Antibiotics Blood transfusion
What are the acute complications of sickle cell anaemia? (4)
Vaso-occlusive crisis
Stroke/ TIA
Infection
Acute chest syndrome (chest pain, cough, lung infiltrates)
What are the chronic complications of sickle cell anaemia? (3)
Pulmonary hypertension
Joint damage
Renal disease
What are the disease-modifying treatments for sickle cell anaemia? (3)
Hydroxycarbamide (increases HbF conc)
Bone marrow transfusion (risk of iron overload)
Stem cell transplant
What is thalassaemia?
Hereditary diseases causing faulty production & premature destruction of RBCs
Thalassaemia is common in which continents? (3)
Mediterranean
Middle East
Asia