Anaemias

Question 1

What is Aplastic Anaemia?

Answer 1

A pancytopenia due to destruction of the HSC

Question 2

Name three causes of Aplastic Anaemia

Answer 2

Genetic - Fanconi Anaemia
Radiation
Infection - HIV/EBV

Question 3

Name two other features of Fanconi Anaemia

Answer 3

Predisposition to malignancy
Short Stature

Question 4

Name two investigations for Aplastic Anaemia

Answer 4

Bloods (inc EPO)
BM Biopsy (dry tap)

Question 5

How is Aplastic Anaemia managed?

Answer 5

<50 - SCT
>50 - Immunosupression +/- GCSF +/- Transfusions

Question 6

What characterises autoimmune haemolytic anaemia?

Answer 6

Anaemia
Increased Reticulocytes
Reduced Haptoglobin
+ve Coombs
Sphero and Reticulocytes

Question 7

What is Warm AHA?

Answer 7

IgG causes haemolysis at extravascular sites at body temperature

Question 8

Name two associations of Warm AHA

Answer 8

CLL
SLE

Question 9

What is Cold AHA?

Answer 9

IgM causes haemolysis at 4 degrees intravascularly generally causing raynaud symptoms alongside typical haemolytic anaemia picture

Question 10

How is AHA managed?

Answer 10

Steroids +/- Rituximab

Question 11

What is Beta Thalassaemia major?

Answer 11

Comlete absence of beta globulin chains presenting in first year of life with failure to thrive

Question 12

How is Beta Thalassaemia physiologically compensated?

Answer 12

Increase in HBA2 and HBF

Question 13

How is Beta Thalassaemia Major managed?

Answer 13

Repeated Transfusion
Desferrioxamine

Question 14

How does Beta Thalassaemia trait present?

Answer 14

Typically asymptomatic as only reduced production

Question 15

Name three hereditary haemolytic anaemias

Answer 15

Sickle Cell
G6PDH
Hereditary Spherocytosis

Question 16

Name two immune haemolytic anaemias

Answer 16

AHA
Transfusion related

Question 17

Name two non immune haemolytic anaemias

Answer 17

DIC
TTP/HUS

Question 18

What is Hereditary Spherocytosis?

Answer 18

Most common hereditary HA

Autosomal abnormality in cytoskeleton - then destroyed by spleen

Question 19

Name three features of H.Spherocytosis

Answer 19

Failure to thrive
Jaundice
Splenomegaly

Question 20

How is H.Spherocytosis diagnosed?

Answer 20

Family History +Suggestive bloods + Symptoms

Question 21

Describe the long and short term managements of H.Spherocytosis

Answer 21

Acute - Supportive +/- Transfusion
Long term = folate and splenectomy

Question 22

What age group has the highest incidence of iron deficiency anaemia?

Answer 22

PreSchool

Question 23

What is characteristic of iron deficiency anaemia on blood film?

Answer 23

Anisopoikilocytes

Question 24

Name four causes of macrocytic anaemia

Answer 24

Megaloblastic - B12 deficiency, Folate Deficiency
Non Megaloblastic - Alcohol, Liver Disease

Question 25

What is Methaemaglobinaemia?

Answer 25

Haemoglobin becomes oxidised so cannot carry oxygen Associated - congenital, nitrates, dapsone

Question 26

How does Methaemaglobinaemia present?

Answer 26

CHocolate blood Dyspnoea Headaches

Question 27

How is Methaemaglobinaemia investigated?

Answer 27

Normal pO2 and reduced sats

Question 28

How is Methaemaglobinaemia managed?

Answer 28

Ascorbic Acid +/- Methylene Blue

Question 29

What are Myelodysplastic Syndromes?

Answer 29

Essentially Carcinoma in Situs Can be Primary or Secondary (radiation or chemo)

Question 30

How do Myelodysplastic Syndromes present?

Answer 30

Reduction in various blood counts Can either remain stable or progress to AML

Question 31

What is Myelofibrosis?

Answer 31

Overgrowth of megakaryocytes causing release of platelet growth factors and fibrosis

Question 32

How does myelofibrosis present?

Answer 32

Anaemia Extramedullary Hameatopoiesis Hypermetabolic sx (weight loss, night sweats)

Question 33

Name two characteristic investigations for myelofibrosis

Answer 33

Tear drop poikilocytes on blood film Dry Tap from BM

Question 34

Give three possible managements for Myelofibrosis

Answer 34

JAK2 inhib Thalidomide Periodic Infusions

Question 35

What levels define Polycythamia

Answer 35

Red cells >35ml in males and 32ml in women

Question 36

Name two causes of relative polycythaemia

Answer 36

Dehydration Stress

Question 37

Name two causes of secondary polycythaemia

Answer 37

COPD ALtitude

Question 38

What is Polycythaemia Vera?

Answer 38

95% due to JAK2 mutation causing clonal proliferation

Question 39

Name three presenting features of PV

Answer 39

Itchiness (worse afterbath) Plethora Splenomegaly

Question 40

How is PV managed?

Answer 40

Hydroxyurea+ Aspirin +Therapeutic Venesection

Question 41

Describe the different phenotypes of Hb in Sickle Cell

Answer 41

HbAA HBAS - Trait HBSS - Sick Cell

Question 42

Why does sickle cell not develop until 4-6m?

Answer 42

As that is when foetal hB reduces

Question 43

How is Sickle Cell Diagnosed?

Answer 43

Hb Electrophoresis

Question 44

What is the long term management of sickle cell?

Answer 44

Hydroxyurea - increases HbF and reduces crises Pneumococcal Vax

Question 45

Name the five types of sickle cell crises

Answer 45

THrombotic Acute Chest Aplastic Sequestration Haemolytic

Question 46

In general - how are sickle cell crises managed?

Answer 46

Supportive Oxygen Exchange Transfusions Opiates

Question 47

What is Sideroblastic Anaemia?

Answer 47

Red cells fail to form haem properly Can be congenital or acquired (lead, alcohol)

Question 48

What is characteristic of sideroblastic anaemia?

Answer 48

basophillic stippling

Question 49

How is sideroblastic anaemia managed?

Answer 49

Supportviely

Question 50

How is Vit B12 deficiency managed?

Answer 50

Ig IM hydroxycoalbumin 3 times a week for 2 weeks, then once every 3m Treat B12 deficiency before folate (SCDC)