Congenital anaemia Flashcards
(24 cards)
What does hereditary spherocytosis cause?
Spherical red blood cells which are haemolysed faster
What haemolyses spherocytes?
Retciuloendothelial system
What is the presentation of hereditary spherocytosis?
Anaemia
Jaundice
Splenomegaly
Pigment gallstones
What is the management of hereditary spherocytosis?
Folic acid
Transfusion
Splenectomy
What causes a problem with the pentose phosphate shunt?
G6PD deficiency
What does G6PD deficiency lead to?
Oxidative damage of RBCs and increased haemolysis
What is the benefit of G6PD deficiency?
Confers protection against severe malaria, and therefore seen more where malaria if prevalent
What is the presentation of G6PD deficiency?
Jaundice precipitated by infection, certain food or drugs
Neonatal jaundice, splenomegaly, pigment gallstones
What investigations are done for G6PD deficiency?
Blood film- Heinz bodies
What is the management of G6PD deficiency?
Avoid precipitants
What is the pathology in thalassaemia?
Reduced or absent globin chain production
What are the types of thalassaemia?
Alpha thalassaemia
Beta thalassaemia- major, minor and non transfusion dependent
What is beta thalassaemia major?
No beta chains, reply completely on foetal haemoglobin and HbA2
What is the presentation of beta thalassaemia major?
Severe anaemia from 3-6 months
Expansion of ineffective bone marrow
Splenomegaly
Gorwth retardation
What is the management of beta thalassaemia major?
Transfusions every 4-6 weeks
Iron chelation therapy to prevent iron overload
What is the curative treatment of beta thalassaemia major?
Bone marrow transplant
What is non transfusion dependent thalassaemia?
Mix of mutations
May require transfusions at times of stress e.g. pregnancy
What is beta thalassaemia minor?
Carrier state
What is the genetics of sickle cell anaemia?
2 alpha chains
2 beta sickle chains
What are the consequences of sickle cell disease?
Sickle cells are fragile and haemolyse
They block small blood vessels and cause vasoocclusion
What is the presentation of sickle cell?
Chronic haemolytic anaemia- anaemia, jaundice, splenomegaly
Occlusion- stroke, vaso-occlusive crises, chest crises
Infection risk
What is the management of vaso-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 are the management principles of sickle cell?
Lifelong infection prophylaxis Blood transfusion Disease modifying drugs Bone marrow transplant Manage acute situations
