Congenital anaemia Flashcards
What can cause congenital anaemia in the red cell membrane?
Defects in membrane proteins causing increased cell destruction
What condition causes defects in the red cell membrane?
Hereditary spherocytosis
What does hereditary spherocytosis cause?
Spherical red blood cells
Defects in 5 membrane proteins
What is the presentation of hereditary spherocytosis?
Anamis
Jaundice
Splenomegaly
Pigment gallstones
What is the treatment of hereditary spherocytosis?
Folic acid
Transfusion
Splenectomy
What metabolic pathways are often the site of pathology?
Glycolysis
Pentose phosphate shunt
What can cause anaemia via defects in glycolysis?
Pyruvate kinase deficiency
What happens in pyruvate kinase deficiency?
Cells rigid and liable to haemolysis
What can cause anaemia via defect in the pentose phosphate shunt?
Glucose phosphate dehydrogenase (G6PD) deficiency
What does G6PD deficiency cause?
Oxidative damage of cells
What is the genetics of G6PD deficiency?
X linked
What is the presentation of G6PD deficiency?
Variable Neonatal jaundice Splenoegaly Pigment gallstoens Drugs precipitating severe haemolysis
What is the treatment of G6PD deficiency?
Avoid precipitants
What defects in haemoglobin can cause anaemia?
Reduced or absent globin chain production
Mutations leading to structurally abnormal globin chain
What condition causes reduced or absent globin chain production?
Thalassaemia
What is alpha thalassaemia?
Defect in alpha chains
Variable
0 alpha chains= incompatible with life
What are the types of beta thalassaemia?
B thalassaemia major
Non transfusion dependent thalassaemia
Thalassaemia minor
What is beta thalassaemia major?
No beta chains
Rely on foetal haemoglobin and HbA2
What is the presentation of beta thalassaemia major?
Severe anaemia- usually presenting at 3-6 months
Expansion of ineffective bone marrow
Splenomegaly
Growth retardation
What is the treatment of beta thalassaemia major?
Transfusion dependent- 4-6 weeks
Iron chelation therapy- prevents iron overloading
Bone marrow transplant- curative
What is non transfusion dependent thalassaemia?
Mix of mutations
May require transfusions in times of stress e.g. pregnancy
What condition can cause a mutation leading to structural abnormal globin chain?
Sickle cell anaemia
What is the genetics of skill cell?
2 alpha chains
2 beta sickle chains
What are the consequences of sickle cell
HAemolysis
Endothelial damage, inflammation, coagulation activation
Aggregation of abnormal cells around area of endothelial damage, causing vasoocclusion
What is the presentation of sickle cell?
VAso-occlusive crises Chest crises Stroke Increased infection risk Chronic haemolytic anaemia
What is the management of vase-occlusive crises in sickle cell?
Fast analgesia
Hydration
Oxygen
What is the management of chest crises in sickle cell?
Resp support Antibiotics IV fluids Analgesia Transfusion
What is the management of sickle cell?
Lifelong prophylaxis- vaccinations, folic acid, antibiotics
Acute- hydration, oxygen, prompt treatment of infection
Analgesia
Blood transfusion
Disease modifying drugs
Bone marrow transplant
