Haem

Question 1

Microcytic anaemia causes

Answer 1

Low iron, thalassaemia, sideroblastic
Sometimes chronic disease

Question 2

Macrocytic anaemia causes

Answer 2

B12/folate deficiency, chronic liver disease

Question 3

Normocytic anaemia - low retics

Answer 3

Diamond-Blackfann anaemia, Fanconi’s anaemia, TEC (transient erythroblastosis of childhood)

Question 4

Normocytic anaemia - high retics

Answer 4

Bleeding, haemolysis, bone marrow infiltrates

Question 5

Signs of thalassaemia

Answer 5

o Chipmunk facies
o Bony deformities (frontal bossing)
o Dental malocclusion
o Jaundice
o HSM
o Desferroxamine signs (scars, retinopathy, cataracts)

Question 6

Signs of iron deficiency

Answer 6

Pallor in skin and conjunctiva
Pale atrophic tongue
Angular cheilosis/stomatitis
Leuconychia

Question 7

Features of bleeding

Answer 7

• Bruises
• Petechiae
• CNS, joints, sputum, urine, stool blood loss

Question 8

Causes of clotting defects

Answer 8

o Congenital - haemophilia; vWD
o Acquired - liver disease; DIC

Question 9

Causes of low platelets - congenital

Answer 9

 Trisomies
 Short statures → Noonan, Turner’s
 Abnormal thumbs → TAR, Fanconi’s
 Abnormal skin → Wiskott Aldrich
 Bernard Soulier

Question 10

Causes of low platelets - acquired

Answer 10

Marrow infiltration (leukaemia, lymphoma)
Immune (ITP, SLE, alloimune)
Drugs (PHT, valproate, sulphonamides)
Infective (EBV, CMV, HIV)
Metabolic
Consumption (hypersplenism, haemangiomas)

Question 11

Eczema and lots of bruising

Answer 11

Wiskott Aldrich

Question 12

Evidence of CLD

Answer 12

Spider naevi, pruritus, jaundice, oedema

Question 13

Sickle cell anaemia features

Answer 13

Anaemia
Haemolysis → bone, HSM, lymphadenopathy

Question 14

Sickle cell complications

Answer 14

Vaso-occlusive disease (VOD) -> neuro, resp, CVS, abdo, joints, renal
Aplastic crisis -> increased pallor, URTIs, splenic sequestation, hypotension, generally unwell
Haemolysis -> lymphadenopathy, hepatosplenomegaly, bone expansion +- compression +- fractures, RUQ pain
Anaemia -> cognitive decline, CHF, SOBOE

Question 15

Features of thalassaemia

Answer 15

• Growth → impaired height, increased HC
• Puberty → delayed
• Dysmorphology → chip-munk facies, protrusion of teeth, frontal bossing
• Hands → pale, periungal pigmentation
• Eyes → jaundice
• Abdomen → HSM, gallstones
• Urinalysis → ↑ urobilinogen

Question 16

Complications of thalassaemia

Answer 16

• Anaemia → high output failure, impaired cognition
• Haemolysis → folate ↓, RUQ pain with gallstones, jaundice
• Extra-medullary expansion
  –> Facial bones: impaired hearing
  –> Spine: bone pain, fractures, spinal cord compression, cortical thinning, high risk #’s
  –> HSM
  –> Lymphadenopathy (especially mediastinal)

Question 17

Complications of desferroxamine

Answer 17

• Local irritation
• Hypotension
• Vision – pigmentary retinopathy, Cataracts, night blindness, decreased visual fields and acuity
• Hearing impairment (SNL of CNVIII)
• Bone – pseudorickets, metaphyseal changes, flat vertebral bodies
• Altered renal function

Question 18

Complications of recurrent blood transfusions

Answer 18

• Infective → HBV, HCV with CLD
• Fe overload:
  o Pituitary/gonadal = delayed puberty, oestrogen/testosterone def, hypogonadism
  o Hypothyroidism
  o Hypoparathyroidism↓ Ca+2
  o Cardiomyopathy, arrhythmias, pericarditis, CCF
  o Diabetes mellitus
  o Liver cirrhosis and hepatic failure (risk after 7 years)
  o Arthritis
  o Bronzed skin
  o Infection: iron loving organisms such as Yersinia