Leukaemias

Question 1

Acute Lymphoblastic leukaemia (ALL) - presentation

Answer 1

A disease characterised by the rapid multiplication of immature lymphblasts leading to infiltration or organs and crowding out of other blood cells. Occurs in 2-5yros and in old age and presents with fatigue, anaemia, infections, weight loss/anorexia, petechia/brusing, oedema, bony pain and enlarged lymph nodes

Question 2

Chronic Lymphoblastic leukaemia (CLL)

Answer 2

A cancer of B-cells which can also present as small lymphocytic lymphoma. occurs mainly in men >50yrs. Asymptomatic in the early stages (high WCC) but leads to swollen lymoh nodes, spleen, liver and anaemia/infection. early disease is not treated and later disease is treated with chemotherapy & monoclonal antibodies with some symptomatic surgery or radiation therapy

Question 3

Acute myeloid leukaemia (AML) - presentation

Answer 3

A cancer of myeloid blast cells & is the most common acute leukemia in adults
presents with fever/fatigue/weight loss/anorexia then anaemia, vulnerability to infection and low platelets.
Can show mild splenomegaly but no lymph node swelling, and there is occasional gum swelling

Question 4

Chronic Myeloid leukaemia (CML)

Answer 4

A chronic cancer of myeloid cells linked to the philadelphia chr translocation (t9,22, bcr-abl)
Presents asymptomatically with raised WCC going on to painful splenomegaly, joint pain, anaemia, fever & platelet flucuation.
95% survival rate due to tyrosine kinase inhibitors (end in -inib)

Question 5

Acute Lymphoblastic leukaemia (ALL) - treatment & prognosis

Answer 5

Due to chromosomal translocations most commonly (TEL-AML1). 95% of children affected are cured and adults have 30-40% 5-year survival
Treat with chemo first, then combining with radio if needed. 70% of childhood leukaemia is ALL

Question 6

Acute myeloid leukaemia (AML) - Prognosis & treatment

Answer 6

Treatment is with chemo, and Marrow transplant if chemo unsuccessful or 1st line in high risk patients
5yr-survival ranges from 15-70% depending on genetics with cure rates being 20-45%

Question 7

Haemophilia A

Answer 7

A genetic defect in facter VIII with usually affects males (70% inherited, 30% spont)
Presents with easy brusing and excessive bleeding from injuries or into joints, muscles,GIT or brain

Question 8

Haemophilia B

Answer 8

A genetic defect in factor IX, which can be transfused into the patient to treat. presents with bleeding into joints or muscles or in response to mild trauma

Question 9

Thalassaemia

Answer 9

A group of genetic disorders in haemoglobin which will present with microcytic anaemia (but will have normal RBC count unlike iron defiency). prevalence is linked to malaria risk

Question 10

Alpha (α) thalassemias

Answer 10

Involve HBA1/2 with deficient alpha chains and too many Beta chains. vary on mutation load from mild to fatal anaemia

Question 11

Beta (β) thalassemias

Answer 11

Reduced Beta chains. Varies from Major, which will present early in life with anaemia, poor growth and skeletal abnormalities, intermedia and minor are less severe

Question 12

Delta (δ) thalassemia

Answer 12

not clinically important as Delta chains are only in 3% of RBCs, but it can co-occur with Beta and prevent the usual finding of increased delta chains, which means it can mask a Beta thalassaemia