Aplastic anaemia, sickle cell anaemia, B12 and folate deficiency

Question 1

Define/cause of aplastic anaemia?

Answer 1

A rare haematological disorder characterised by bone marrow failure, leading to pancytopenia.

Inherited
Acquired -immune-mediated, toxins, meds, viral infections (EBV, hepatitis, parvovirus B19), pregnancy.

Question 2

Presentations of aplastic anaemia?

Answer 2

pancytopenia
fatigue
pallor
infections
easy bruising/bleeding

Drug exposure in the last 6 months
Occupational exposure to chemicals
Recent infections
Co-morbidities.

In Fanconi’s anaemia: pigmentation abnormalities, hearing defects, renal abnormalities, genital abnormalities, solid tumours, and short stature.

In dyskeratosis congenita: nail malformations, oral leukoplakia, and a reticulated skin rash.

Question 3

Diagnosis/IVx of aplastic anaemia?

Answer 3

Bone Marrow Aspiration and Biopsy -GOLD STANDARD (hypocellular)

FBC

Hematopoietic Stem Cell StudieS

Immunological Assays

Question 4

Management of aplastic anaemia?

Answer 4

Supportive care
Hematopoietic Stem Cell Transplant
Immunosuppressive Therapy
Blood Transfusions
Pregnancy-associated Aplastic Anaemia

Question 5

Causes of B12 and folate deficiency?

Answer 5

B12 deficiency:
Low dietary intake
Malabsorption
Low intrinsic factor

Folate deficiency:
Low dietary intake
Malabsorption
Increased requirements like pregnancy.

Question 6

Presentation of B12 and folate deficiency?

Answer 6

Fatigue
Pallor
Glossitis -SMOOTH BEEFY-RED TONGUE
Neuro -affecting balance, sensation, and coordination.
Cognitive Impairment
Jaundice

Question 7

Diagnosis/IVx of B12 and folate deficiency?

Answer 7

FBC -macrocytic anaemia
Blood film - HYPERSEGMENTED NEUTROPHILS and TEAR DROP CELLS
Iron and B12 studies
Intrinsic factor antibodies

Question 8

Management of B12 and folate deficiency?

Answer 8

If not pernicious anaemia:
Dietary advice

IM B12 and folic acid supplements (5mg OD)

If pernicious anaemia (B12 def) = lifelong B12 replacement (hydroxycobalamin)

Question 9

Define sickle cell anaemia?

Answer 9

An autosomal recessive condition in which a point mutation in the beta chain on chromosome 11 leads to the production of HbS (rather than HbA).

Central and West African descent

Question 10

Presentation of sickle cell anaemia?

Answer 10

Painful vaso-occlusive crises

Acute chest crises
- tachypnoea, wheeze, and cough, with hypoxia and pulmonary infiltrates on chest X-ray

Other complications:
Splenic infarction and subsequent immunocompromise
Sequestration crisis
Osteomyelitis
Stroke
Dactylitis
Poor growth
Chronic renal disease
Gallstones
Retinal disorders

Question 11

Diagnosis/IVx of sickle cell anaemia?

Answer 11

BLOOD FILM:
characteristic sickle cells
target cells
reticulocytosis with polychromasia
features of functional hyposplenism (Howell–Jolly bodies, nucleated red cells)

FBC

haemoglobin electrophoresis +/– genetic testing -GOLD STANDARD

Peak flow -chest crisis

Screening for sickle cell disease

Question 12

Management of sickle cell anaemia?

Answer 12

Acute sickle cell crisis:
High-flow oxygen
IV fluids and analgesia
Top-up transfusions – required in some severe cases

Chronic sickle cell disease:
Hydroxycarbamide
Vaccinations and antibiotic prophylaxis
crizaniluzumab
voxelotor