Lecture 3 Red Cells 1 Flashcards
Name 4 causes of anaemia
Blood loss
Increased cell destruction
Lack of production
Defective production
Name the substances required for red cell production
Metals: iron, magnesium, cooper and cobalt
Vitamins: B12, folate, thiamine, Vit B6, C and E
Amino acids
Hormones: Erythropoietin
Where does red cell breakdown occur
In reticuloendothelial system Macrophages in spleen, liver, lymph nodes and lungs
What is the normal red cell life span
120 days
What is bilirubin bound to in plasma
Albumin
What is Hereditary Spherocytosis
Defects in 5 different strutural proteins
- Ankyrin
- Alpha spectrin
- Beta spectrin
- Band 3
- Protein 4.2
What are the shape of RBC is hereditary Spherocytosis
Spherical
What are the clinical features of an individual with Hereditary Spherocytosis
Anaemia
Jaundice (neonatal)
Splenomegaly
Pigment gallstones
How is Hereditary Spherocytosis treated
Folic acid
Transfusion
Splenectomy (if anaemia severe)
What type of anaemia is hereditary spherocytosis
Normocytic Haemolytic anaemia
Membrane defect
What is the Pentose phosphate shunt
Protects red blood cells from oxidative damage
What does G6DP produce and what is it vital for
NADPH
Vital for reduction of glutathione
What type of inheritance is G6DP deficiency
X linked recessive
Affects Males
Female Carriers
What is the appearance of the red blood cells in G6DP deficiency
Blister/bite ccells
What is the clinical presentation of G6DP deficiency
Anaemia
Neonatal jaundice
Splenomegaly
Pigment gallstones
Name triggers of haemolysis in G6DP deficiency
Infection
Broad beans
Drugs (antimalarials, aspirin, Vit K analogues, Sulphonamide)s
What happens during pyruvate kinase dificiency
Reduced ATP
Increased 2,30DPG
Cells rigid
What type of anaemia is caused by G6DP deficiency and Pyruvate kinase deficiency
Normocytic Anaemia
Enzyme defect
What is Thalassaemia
Reduced or absent globin chain production
What type of anaemia does Thalassaemia cause
Microcytic
What type of mutation causes sickle cell
Point mutation
What is the clinical presentation of Sickle Cell
Painful vaso-occlusive crisis Chest crisis Stroke Splenimegaly Splenic atrophy
Name medication used for life-long prophylaxis in sickle cell
Vaccination
Penicillin
Folic acid
What type of anaemia does sickle cell cause
Normocytic
Abnormal haemoglobin
What is Homozygous alpha zero thalassaemia
No alpha chains
Hydrops fetalis- incompatible with life
What is Beta Thalassaemia major
No beta chains
Transfusion dependent anaemia
What stage in life is Beta thalassaemia present
First 3-6 months of life
What is Thalassaemia minor
Trait or carrier state
How do the cells appear in Thalassaemia minor
Hypochromic and microcytic
Defects in mitochondrial steps of haem synthesis result in___
Sideroblastic anaemia
