Clinical Conditions Flashcards
Sickle cell anaemia
Inheritance and effect
- autosomal recessive
- glutamate to valine
- hydrophilic to phobic
- Hb adopts T state and adopts a sickle shape
- block microvasculature and cause sickle cell crisis
What is a sickle cell crisis and what causes it to occur?
- downstream ischaemia leading to necrosis
- Caused by factors promoting T state and a decrease in O2 availability-e.g. Smoking,obesity,cold and infection
What is haemolytic anaemia?
- spleen removing sickles RBC
- jaundice as a result of excess bilirubin from RBC breakdown
Cystic fibrosis
Inheritance and effects
- autosomal recessive
- defect with CFTR protein
- stops Cl- ions from leaving tissues and thus water moves into tissues, leaving vey sticky mucus
Explain the respiratory effects of CF and explain how these can be treated
- cilia stop working, mucus builds up, bacteria cannot be cleared and so infection occurs
- prophylaxis for lungs
Explain the effects of CF on the pancreas and how it can be treated.
- blocks pancreatic duct causing pancreatitis and stops fat digestion
- lipase tablets to digest fat
Explain the effects of CF on sweat
Sweat becomes salty (good test for CF)
What effect does CF have on vas deferens in males? How can it be treated?
Never forms=infertility
Bypass vas deferens and recover sperm from testes
What are thalassaemias?
- imbalance of alpha and beta subunits
- alpha occurs before birth and affects the alpha subunits in fetus (as others are gamma)
- beta=after birth
- cannot form stable tetramer
- reduced Hb, reduced O2 carrying capacity and therefore anaemia
Haemophilia A
Inheritance
Treatment
X linked recessive
Lack of factor 8
Blood cannot clot properly within blood vessels
recombinant factor 8
Scurvy
Vit C deficiency
- needed by prolyl hydroxylase (converts proline to hydroxyproline) enzyme to form H bonds between tropocollagen helices
- weak collagen,less cross links, weakened structure
Down’s syndrome
Chromosome change
Trisomy 21 (extra chromosome on chromosome 21)
- meiotic division error or robertsonian translocation
- facial features,impaired intelligence, heart defects, leukaemia,Alzheimer’s
- can be screened during pregnancy
Edwards syndrome
Chromosome change
Trisomy 18-rocker bottom feet, overlapping fingers, small jaw, live one or 2 weeks
Pataus syndrome
Chromosome Change
Trisomy 13
Heart defects, cleft lip
Early death
turners syndrome
- monosomy X
- occurs in women, single X chromosome
- short,heart defects,learning difficulties,infertility
