Sickle cell anaemia

  • Autosomal Recessive Inheritance
  • Prevalent in Afro-Caribbean populations o
  • More common in malaria-affected areas – malarial parasites grow poorly in sickle cells

 

Microscopy
  • sickle-shaped RBCs

 

Clinical Features
  • Anaemia Symptoms
  • Swelling of hands and feet
  • Frequent infections
  • Delayed growth/puberty

 

Treatment:
  • Currently no cure; But Stem cell transplants have future promise
  • Treatment aimed at avoiding pain, relieving symptoms & preventing complications
  • Hydroxyurea – reduces frequency of painful crises
  • L-Glutamine – Reduces frequency & severity of pain crises
  • Analgesics

 

Complications

  • Retinopathy
  • Growth delay
  • Renal disease
  • Stroke
  • Pulmonary hypertension
  • Heart disease
  • Gallstones
  • Increased risk of miscarriage

 

cystic fibrosis

  • Simple Autosomal Recessive CFTR Gene Mutation (Q-arm of Chromosome 7)
  • 1/25 people are carriers
  • Affects Lungs, Pancreas, Intestines & Skin

Clinical Features

  • Lungs
    • Thicker Mucus & reduced clearance, Ciliated cells can’t move mucus up trachea
    • Frequent Lung Infections
  • Pancreas
    • Obstructed Pancreatic Duct causing pancreatic Failure
    • Hinders proper digestion (no pancreatic enzymes →duodenum)
  • Intestines
    • Poor Digestion & Malabsorption resulting in malnutrition
    • Fatty stools
  • Reproductive Ducts
    • Obstructed Vas-Deferens which results in infertility
  • Sweat Glands
    • Secrete salt to induce H2O flow but salt isn’t actively reabsorbed

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