Haematology conditions Flashcards
What is haemachromatosis?
An inherited disorder where there are increased iron levels over time due to dysregulated iron absorption and increased macrophage iron release
How will someone with haemochromatosis classically present?
Fatigue Weakness Lethargy Cirrhosis Diabetes mellitus Erectile dysfunction Reduced libido Arthralgia (eg gout)
What causes haemochromatosis?
genetic mutation
What are some risk factors for haemochromatosis?
Middle age Male sex White ancestry Family history Increased iron intake
What are the first line investigations for haemachromatosis and what would you see?
Serum transferrin- high
Serum ferritin- high
How is haemochromatosis managed?
Stage 1= observe and lifestyle advice to reduce iron intake and stop iron and vitamin C supplements
Stage 2= phlebotomy as removing blood reduces iron levels
Stage 3= phlebotomy and iron chelation
What are some complications of haemochromatosis?
Arrhythmia Congestive HF Cirrhosis/ hepatomegaly Diabetes mellitus Hypogonadism
Why are patients with haemochromatosis told not to take vitamin C suuplements? When might doctors encourage them to take them instead?
Vitamin C increases iron absorption
Doctors might give them before iron chelation to increase the amount of iron that is available to remove
When might phlebotomy be contraindicated as a treatment for haemochromatosis?
If the patient is anaemic
If venous access is not possible
How will someone with B12 and folate deficiency classically present?
Neurological features- bilateral parasthesia, ataxia, cognitive decline Fatigue Dyspnoea Tachypnoea Palpitations
What are some risk factors for developing B12 and folate deficiency?
Increasing age
Low dietary intake
Chronic GI condition (leading to malabsorption)
Gastric/ bypass surgery
Vegan diet
Being on metformin
Being on a PPI (B12 needs peptic acid to be freed so it can be absorbed)
What are the first line investigations for B12 and folate deficiency and what will you see?
Serum B12- low
Serum folate- low
Bloods- MCV high, Hb low, haematocrit low
Blood film- megaloblastic/ pernicious anaemia- macrocytosis of RBC, hypersegmented neutrophils
How is B12/ folate deficiency managed?
If there are neurological symptoms refer them to haematology immediately
In emergencies IM injections of hydroxycobalamin
If not due to diet also IM injections
Dietary advice on eating foods rich in B12 eg meat, cheese, eggs, fortified cereals/soy products
What is pernicious anaemia?
A type of megaloblastic anaemia that arises due to B12 deficiency
What is cobalamin?
Another name for B12
What is the difference between pernicious anaemia and megaloblastic anaemia?
Pernicious anaemia is a type of megaloblastic anaemia which arises due to B12 deficiency
What is sickle cell disease?
An inherited disorder where a genetic mutation causes abnormal haemoglobin to be produced leading to dysfunctional RBCs
How will sickle cell disease classically present?
In an acute crisis= acute pain in the skeleton, abdomen or chest, SOB, tachycardia
In children= dactylitis (painful swelling of the bones of the hands and feet)
Why do patients with sickle cell have abdominal pain? What type of pain is it
They have intermittent abdominal pain often due to gallstones because they are at higher risk of gallstone formation
What is is dactylitis? In what condition is it prominent and what type of patients present with it
It is painful swelling of the bones in the hands and feet
It is a common presentation of sickle cell disease in children
How is sickle cell disease diagnosed?
Usually at birth after the heel prick test which is done on 5 day old babies
In older patients 2 positive tests are needed to diagnose it including reticulocyte count, MCV, haemoglobin electrophoresis or blood film
What are the first line investigations in an acute sickle cell crisis?
Full bloods- FBC and reticulocyte count
Liver function tests
Kidney function tests
Imaging may include CT, xray or MRI
How is sickle cell disease managed?
Pain relief for chronic pain- paracetamol or NSAIDs, avoid opioid analgesia unless there is an acute crisis
If giving opioid analgesia give an antihistamine alongside it to avoid pruritus
What mutation is present in sickle cell disease and what is produced as a result?
There in a mutation in the haemoglobin beta gene on chromosome 11
As a result abnormal haemoglobin is produced which is not capable of transporting oxygen effectively and causes RBCs to be sickle shaped