Haemolytic Anaemias And The Haemoglobinpathies Flashcards
What are the inherited haemolytic anemaia
Sphereocytosis
Sickle cell anaemia and thalassemia
G6PDH deficiency
Pyruvate kinase deficiency (glycolysis deficiency)
What are the acquired haemolytic anaemia s
Autoimmune haemolytic anaemias (antibody related damage)
Microangiopathic haemolytic anaemias (MAHA)
What type of disease if the pyruvate deficiency
Autosomal recessive
No pyruvate kinase
that would be used to produce the ATP needed for the red blood cells to survive
Need for the blood transfusions
What does the haemolytic anaemias do the the red blood cells
Would decrease the half life (more to like 20-30 days)
Would have the low turnover
What is the PKLR mutation for the pyruvate deficiency
When have a mutated gene
No isoenzymes L or R that would be shown in the liver and the erythrocytes
No working pyruvate kinase
AUTOSOMAL DOMINANT
What are the types of jaundice
Pre-hepatic: increase break down of the RBCs, more billirubin released
Hepatic: build of the billirubin in the liver
Post-hepatic: obstruction of the billary path, build up, gall Stones
What is the G6PDH deficiency
X-linked recessive
No maintained NADPH levels
No protection from the oxidative damage
Also no glutathione made in the RBCS
What is hereditary sphereocytosis
Autosomal dominant
Damage to the membrane proteins
BAND 3, PROTEIN 4.2, SPECTRIN, ANKYRIN
low density, decreased lipid stability, micro vesicles made would damage the shape
What are the types of haemoglobin
A : alpha chains and beta chains
A2 : alpha chains and delta chains
F : alpha and gamma chains
What is beta thalassemia (minor and major)
Minor: mutation in one or two of the gene, would not make the right chains
Major: would have the mutations of all the genes, so would have the complete absence of the chains
Need transfusions in early life as Alpha Hb cannot replace the fetal Hb to form the beta hb
What amino acid change leads to sickle cell anaemia
Uncharged valine for charger glutamate on position 6
More likely to polymerise
What is are the heterozygous and homozygous forms of HbS
Normally all autosomal recessive
Heterozygous: resistance to malaria
Homozygous: sickle cells
What is alpha thalassemia
Loss of the alpha chains
Loss of one or two= mild microcytosis
Loss of all the genes= fetal death (no chains at all)
What is haemoglobin H disease
When have 3 of the 4 alpha chains not functioning
Anaemia, severe microcytosis, splenomegaly
What are the MAHA disease
Diseases when the red blood cells would be damaged
Thrombotic thrombocytopenic purpura: small thrombi form in the vessels
DIC: bleeding and coagulation at the same time
