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