Thalassaemia 2018-01-30T16:38:24+00:00

Relevant physical signs

  • Signs of extra-medullary hematopoiesis
    • Frontal bossing
    • Maxillary overgrowth
    • Scoliosis
    • Hepatosplenomegaly
  • Signs and complications of chronic haemolysis
    • Conjunctival pallor
    • Scleral icterus
    • Kocher’s scar (previous cholecystectomy)
    • Right ventricular heave, loud P2 (pulmonary hypertension – aetiology not entirely clear)
  • Signs of iron overload
    • Slate grey skin
    • Displaced apex beat (congestive cardiac failure)
    • Implantable cardiac device
    • Finger prick blood sugar marks (diabetes mellitus)
    • Diabetic dermopathic changes
    • Signs of chronic liver disease
  • Complete examination by:
    • Examining testes (hypogonadotropic hypogonadism from pituitary iron loading)
    • Doing a urine dipstick (glycosuria)
    • Examining the cardiovascular system (iron overload)
    • Examining the musculoskeletal system (arthritis)

Differential diagnosis

  • Thalassaemia major
  • Thalassaemia intermedia
  • Hereditary spherocytosis
  • Hereditary elliptocytosis
  • Autoimmune haemolytic anaemia

Investigations

  • Confirm diagnosis: haemoglobin electrophoresis
    • Beta thalassaemia minor (β00 or β/β+) / intermedia (β+/ β+)
      • HbA2 increased (3.5 – 7%)
      • HbF increased in some patients
    • Beta thalassaemia major (β0/ β0)
      • HbA absent
      • Increased HbA2 and HbF
    • β0 = thalassaemia gene producing no β chain; β+ = thalassaemia gene producing some β chain
    • Alpha thalassaemia carrier (αα/α-): asymptomatic, <3% Hb Barts at birth
    • Alpha thalassaemia minor (αα/– or α-/α-): 3 – 8% Hb Barts at birth
    • HbH disease (α-/–): 5 – 30% HbH, 20 – 40% Hb Barts at birth
    • Alpha thalassaemia major (–/–): fetal hydrops, fatal
  • Assess severity
    • Full blood count to look at Hb level
    • Markers of haemolysis
      • Unconjugated bilirubin (high)
      • Lactate dehydrogenase (high)
      • Serum haptoglobin (low)
    • Look for complications of iron overload
      • Transthoracic echocardiogram
      • If TTE normal, consider cardiac magnetic resonance imaging
      • Fasting blood glucose and HbA1c
      • Liver function tests and tests of synthetic liver function
      • Anterior pituitary hormone screen (pituitary infiltration)
        • FSH, LH, testosterone / oestrogen
        • TSH, free T4
        • ACTH, 8am cortisol
        • Somatotropin, IGF-1
        • Prolactin
  • Bone mineral density studies to screen for osteoporosis

Management

  • Multidisciplinary team approach
  • Patient education
  • Genetic counselling (autosomal recessive)
  • Anaemia
    • Chronic transfusion therapy
    • Folic acid supplementation
    • Splenectomy if haemolytic anaemia is severe or if splenomegaly is symptomatic
  • Iron chelation for iron overload (may be secondary to repeated transfusions or increased iron absorption)
  • Anterior pituitary hormone replacement
  • Treatment of diabetes mellitus
  • Consider bisphosphonates for patients with osteoporosis

Summary

Sir, this patient has evidence of extra-medullary haematopoiesis. There is frontal bossing and a maxillary prominence. On examination of the abdomen, there is hepatosplenomegaly. There is mild icterus and conjunctival pallor, which suggests that the underlying aetiology is a chronic haemolytic anaemia. There is no evidence of chronic iron overload; the skin is of normal tone, the apex beat is not displaced, there are no dermopathic changes to suggest underlying diabetes, and there are no stigmata of chronic liver disease. I would like to complete my examination by examining the external genitalia. Differentials for this include thalassaemia major and intermedia, hereditary spherocytosis, hereditary elliptocytosis and autoimmune haemolytic anaemia.

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