Anaemia - Haemolytic Flashcards
What are the 4 types of alpha thalassaemia?
Describe the genetic basis of each.
Alpha thalassaemia trait (-a/aa)
Alpha thalassaemia trait (–/aa or -a/-a)
Alpha thalassaemia minor (–/-a)
Alpha thalassaemia major (–/–)
What is haemoglobin H disease?
Alpha thalassaemia minor (–/-a)
What is haemoglobin Bart’s anaemia?
Alpha thalassaemia major (–/–)
Describe the clinical features of alpha thalassaemia trait. (1)
What features would be seen in the blood? (3)
SYMPTOMS:
Asymptomatic
BLOOD:
Decreased MCV
Elevated RBC count
Possible mild anaemia
Describe the clinical features of alpha thalassaemia minor. (3)
What features would be seen in the blood? (4)
SYMPTOMS:
Hepatosplenomegaly
Jaundice
Leg ulcers
BLOOD: Haemolytic anaemia Haemoglobin <75g/L Decreased MCV Variously shaped RBCs
Describe the clinical features of alpha thalassaemia major. (1)
Incompatible with life
What are the 2 types of mutation which cause beta thalassaemia?
B+ - insufficient B chain production
B0 - no B chain production at all
What are the 3 types of beta thalassaemia?
Describe the genetic basis of each.
Beta thalassaemia trait (B/B+)
Beta thalassaemia intermedia (B+/B+)
Beta thalassaemia major (B0/B0)
What is Cooley’s anaemia?
Beta thalassaemia major (B0/B0)
Describe the clinical features of beta thalassaemia trait. (1)
What features would be seen in the blood? (2)
SYMPTOMS:
Asymptomatic
BLOOD:
Mild anaemia
Slight increased in HbF
Describe the clinical features of beta thalassaemia intermedia. (1)
What features would be seen in the blood? (1)
SYMPTOMS:
Splenomegaly
BLOOD:
Moderate anaemia
Describe the clinical features of beta thalassaemia major. (4)
What features would be seen in the blood? (5)
SYMPTOMS: Failure to thrive Extramedullary haemopoiesis, e.g. -Abnormal head shape (bossing) -Hepatosplenomegaly Osteopenia "Hair on end" sign on skull x-ray
BLOOD: Severe microcytic, hypochromic anaemia Target cells Nucleated RBCs Elevated HbF Absent HbA
What is sickle cell anaemia caused by?
Abnormal haemoglobin (HbS) due to abnormally shaped B chains
Describe the clinical features of sickle cell anaemia. (5)
Well-tolerated anaemia
Hyposplenism
Acute sickle cell crises:
- Painful microvascular occlusion
- Organ failure
In sickle cell anaemia, what features would be found on examination of the blood? (5)
Sickle-shaped RBCs Target cells Elevated reticulocytes Haemolysis Elevated unconjugated bilirubin
In warm autoimmune haemolytic anaemia, what features would be found on examination of the blood? (5)
Spherocytes Reticulocytes Nucleated RBCs Polychromatic RBCs Positive Coombs' test
In cold autoimmune haemolytic anaemia, what features would be found on examination of the blood? (2)
Cold agglutinins (anti-I antibody) Positive Coombs' test
In haemolytic disease of the newborn, what features would be found on examination of the blood? (3)
Nucleated RBCs
Elevated reticulocytes
Positive Coombs’ test
List 6 causes of fragmentation haemolysis.
Mechanical heart valves Blood vessel abnormalities DIC HUS Hyperplenism
Drugs, e.g.
- Acute lead poisoning
- Copper toxicity
- Spider/snake venom
In fragmentation haemolysis, what features would be seen on examination of the blood? (1)
Fragmented RBCs
