Thalassaemia and SIckle Cell

Question 1

What is thalassaemia?

Answer 1

Genetic defect in the protein chains that make up haemoglobin

Autosomal recessive

Bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia

Susceptibility to fractures and prominent features such as a pronounced forehead and malar eminences

Question 2

Potential Signs and Symptoms of thallasaemia

Answer 2

Microcytic anaemia (low mean corpuscular volume)

Fatigue
Pallor

Jaundice

Gallstones

Splenomegaly

Poor growth and development

Pronounced forehead and malar eminences

Question 3

Thalassaemia and iron overload

Answer 3

Faulty creation of red blood cells, recurrent transfusions and increased absorption of iron in response to the anaemia

Management involves limiting transfusions and iron chelation
Can cause similar effects to haemochromatosis

Question 4

Alpha-thalassaemia management

Answer 4

Monitoring the full blood count

Monitoring for complications

Blood transfusions

Splenectomy may be performed

Bone marrow transplant can be curative

Question 5

Beta-thalassaemia types

Answer 5

Thalassaemia minor

Thalassaemia intermedia

Thalassaemia major

Question 6

Thalassaemia minor

Answer 6

One abnormal and one normal gene

Causes a mild microcytic anaemia and usually patients only require monitoring

Question 7

Thalassaemia intermedia

Answer 7

Two defective genes or one defective gene and one deletion gene

More significant microcytic anaemia and patients require monitoring and occasional blood transfusions

Question 8

Thalassaemia major

Answer 8

no functioning beta-globin genes

severe anaemia and failure to thrive in early childhood

Severe microcytic anaemia
Splenomegaly
Bone deformities

Question 9

Sickle cell anaemia

Answer 9

autosomal recessive
abnormal gene for beta-globin on chromosome 11
red blood cells to be an abnormal “sickle” shape

more common in patients from areas traditionally affected by malaria

Question 10

Complications of Sickle cell

Answer 10

Anaemia

Increased risk of infection

Stroke

Avascular necrosis in large joints such as the hip

Pulmonary hypertension

Painful and persistent penile erection (priapism)

Chronic kidney disease

Sickle cell crises

Acute chest syndrome

Question 11

Management of sickle cell

Answer 11

Managed supportively

Have a low threshold for admission to hospital
Treat any infection
Keep warm
Keep well hydrated (IV fluids may be required)
Simple analgesia such as paracetamol and ibuprofen
Penile aspiration in priapism

Question 12

Vaso-occlusive Crisis (AKA painful crisis)

Answer 12

Sikle shaped blood cells clogging capillaries causing distal ischaemia

Associated with dehydration and raised haematocrit

Typically pain, fever and those of the triggering infection

Question 13

Splenic Sequestration Crisis

Answer 13

red blood cells blocking blood flow within the spleen
lead to a severe anaemia and circulatory collapse

Management is supportive with blood transfusions and fluid resuscitation
Splenectomy prevents sequestration crisis and is often used in cases of recurrent crises

Question 14

Aplastic Crisis

Answer 14

Temporary loss of the creation of new blood cells
Most commonly triggered by infection with parvovirus B19
Supportive management usually resolves within a week

Question 15

Acute Chest Syndrome

Answer 15

Fever or respiratory symptoms with
New infiltrates seen on a chest xray

Medical emergency with a high mortality and requires prompt supportive management

Antibiotics or antivirals for infections
Blood transfusions for anaemia
Incentive spirometry using a machine that encourages effective and deep breathing
Artificial ventilation