Haematology conditions Flashcards by Aaska Banthiya

What is haemachromatosis?

An inherited disorder where there are increased iron levels over time due to dysregulated iron absorption and increased macrophage iron release

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How will someone with haemochromatosis classically present?

Fatigue
Weakness
Lethargy
Cirrhosis
Diabetes mellitus
Erectile dysfunction
Reduced libido
Arthralgia (eg gout)

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What causes haemochromatosis?

genetic mutation

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What are some risk factors for haemochromatosis?

Middle age
Male sex
White ancestry
Family history
Increased iron intake

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What are the first line investigations for haemachromatosis and what would you see?

Serum transferrin- high

Serum ferritin- high

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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

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What are some complications of haemochromatosis?

Arrhythmia
Congestive HF
Cirrhosis/ hepatomegaly 
Diabetes mellitus 
Hypogonadism

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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

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When might phlebotomy be contraindicated as a treatment for haemochromatosis?

If the patient is anaemic

If venous access is not possible

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How will someone with B12 and folate deficiency classically present?

Neurological features- bilateral parasthesia, ataxia, cognitive decline
Fatigue
Dyspnoea
Tachypnoea
Palpitations

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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)

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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

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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

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What is pernicious anaemia?

A type of megaloblastic anaemia that arises due to B12 deficiency

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What is cobalamin?

Another name for B12

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What is the difference between pernicious anaemia and megaloblastic anaemia?

Pernicious anaemia is a type of megaloblastic anaemia which arises due to B12 deficiency

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What is sickle cell disease?

An inherited disorder where a genetic mutation causes abnormal haemoglobin to be produced leading to dysfunctional RBCs

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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)

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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

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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

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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

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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

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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

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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

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What is the inheritance pattern of sickle cell disease?

Autosomal recessive

What is sickle cell trait? What is seen in patients with sickle cell trait

When someone has one copy of the sickle cell gene (ie they are a carrier), they are usually asymptomatic because the disease is autosomal recessive but may develop some symptoms

Who is more likely to have sickle cell anaemia? Why?

Black people Sub saharan africans, indians, arabian penninsula- this is because there is positive selection for the gene as it provides protection against malaria

What is polycythaemia vera?

A haematological disorder where there is erythrocytosis, often accompanied by thrombocytosis, leukocytosis etc

How will someone with PV classically present?

Usually they are asymptomatic They may present with a thrombotic event eg stroke, MI etc They may report symptoms like night sweats, bone pain, headache, fatigue etc

Who is more likely to get PV?

``` Older age (above 40) Those with family history ```

What are the first line investigations for PV?

Bloods- MCV, platelets, WCC, haemoglobin, haematocrit all high Postive JAK 12 V617F mutation

What will you see on blood film in someone with sickle cell disease?

Howell Jolly bodies | Sickle shaped RBCs

What mutation is strongly associated with PV?

JAK12 V617F

How is PV managed?

If young and low risk of thrombosis, phlembotomy If older or high risk of thrombosis cytoreductive therapy with hydroxycarbamide (this is mild chemotherapy which stops the production of RBCs because it inhibits DNA replication/synthesis) All patients should be on low dose aspirin have risk for cardiovascular events checked

What is pancytopenia?

A reduction in the number of RBCs, WBCs and platelets

How will someone with pancytopenia classically present?

Symptoms depend on the cause but may include: Bleeding from gums, prolonged bleeding from cuts, epistaxis Infections SOB Fatigue

What are some causes of pancytopenia?

``` Cancer Environmental toxins Medications Autoimmune disorders Blood disorders ```

What are the 3 mechanisms by which pancytopenia arises?

Bone marrow failure Autoimmune destruction of cells in circulation Sequestration of cells in the spleen

What are some investigations for pancytopenia?

Bloods- FBC, WCC, platelets Blood film To find cause: B12/folate levels, LFTs, autoimmune screen, viral serology

How is pancytopenia managed?

Depends on the cause Antivirals if viral Immunosuppressants if autoimmune Bone marrow transplant if due to bone marrow failure Infusions of RBCs, platelets etc as needed

What is a type 1 hypersensitivity reaction?

When a foreign antigen binds to IgE attached to a mast cell etc casuing an allergic reaction due to release of its contents

What is a type 2 hypersensitivity reaction?

Antibody dependant cytotoxic reaction- when an antibody binds to a cell surface antigen and causes activation of t cells/basophils/eosinophils etc

What is a type 3 hypersensitivity reaction?

Deposition of antigen antibody complexes

What is a type 4 hypersensitivity reaction?

T cell sensitisation by foreign antigens and then direct toxicity

Give examples of type 1 hypersensitivity reactions?

All atopic disorders eg atopic dermatitis | Anaphylaxis

Give examples of type 2 hypersensitivity reactions?

Hashimotos thyroiditis, goodpastures, graft disease

Give examples of type 3 hypersensitivity reactions?

Rheumatoid arthritis, SLE

Give examples of type 4 hypersensitivity reactions?

Contact dermatitis | Drug hypersensitivity

What is the difference between atopy and allergy?

Atopy= hypersensitivity due to IgE activation, so all atopy is type 1 hypersensitivity vs Allergy= all hypersensitivity due to a forgein antigen despite the mechanism All atopy= allergy Not all allergy= atopy All type 1 hypersensitivity= atopy= a type of allergy

What is thalassaemia?

An inherited disorder where a mutation in the alpha or beta globin gene leads to reduced haemoglobin production

What are the 2 types types of thalassemia?

A or B

What are the subtypes of alpha thalassaemia? Explain how these subtypes arise

There are 4 genes involved in the alpha globin chain Mutation of 1= asymptomatic and a carrier Mutation of 2= mild signs and symptoms Mutation of 3= moderate/severe signs and symptoms Mutation of 4= stillbirth

What are the subtypes of beta thalassaemia? Explain how these subtypes arise

There are 2 genes involved in the synthesis of the beta globin chain Mutation in 1= mild signs and symptoms aka thalassaemia minor Mutation in 2= moderate/ severe symptoms aka major

What is thalassaemia minor and major?

Both types of beta thalassaemia Minor= mutation 1/2 genes Major= mutation in both genes

How will someone with thalassaemia classically present?

Anaemia symptoms= SOB, fatigue, pallor Infections Splenomegaly

Who is more likely to get thalassaemia?

Those with an ethnicity from a geographically malarial area | Those with family history

On which chromosome and gene are the mutations for alpha and beta thalassaemia?

``` Alpha= alpha gene on chromosome 16 Beta= beta gene on chromosome 11 ```

What are investigations for thalassaemia and what will you see?

``` Bloods: Hb- low or normal MCV- low Mean corpuscular Hb- low Reticulocyte count- high Serum iron and ferritin- high or normal ```

How is thalassaemia managed? Explain why each thing is done

Blood transfusions- to correct anaemia Iron chelation- over time iron levels build up with many transfusions and can cause toxicity to organs do this reduces them Splenectomy- reduces severity of anaemia and makes transfusions more effective Bone marrow transplant- may stop transfusion requirement

What are some complications of thalassaemia? Explain why they arise

Infection- due to splenectomy Structural bone changes, especially bones of the face- bone marrow widens as more RBCs are synthesised in response to anaemia Iron toxicity- due to iron build up from transfusions Growth retardation- due to anaemia Heart problems- if severe, it can cause congestive heart failure and arrhythmia

What happens to alpha chains and beta chains in alpha thalssaemia? Why?

Alpha chains are abnormal | Beta chains are in excess because they dont have enough alpha chains to couple with

Haematology conditions Flashcards

(61 cards)