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35 Cards in this Set

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Haemochromatosis

Overload of iron. Can cause fatigue and damage to the liver, joints, heart and pancreas. Treated by giving blood. AUTOSOMAL RECESSIVE

Sickle Cell Anaemia

Red blood cells are misshapen. Can lead to chest or joint pain and infections, as well as anaemia. AUTOSOMAL RECESSIVE

Thalassemia

Body makes faulty haemoglobin. Can be 'major' or 'minor'. African/Middle Eastern/Asian families. AUTOSOMAL RECESSIVE

Cystic fibrosis

AUTOSOMAL RECESSIVE. 1 in 25 background risk of being a carrier. Affects lungs and digestive system and can affect fertility.

Wilson's

Fault in storing too much copper which can affect liver and brain if untreated- however can be treated with chelation (penicilliamine). AUTOSOMAL RECESSIVE

Haemophilia A

Also known as factor 8 deficiency. Causes problem with blood clotting. X LINKED RECESSIVE meaning only males have it, and only females pass it on.

Haemophilia B

Also known as Factor 9 deficiency or Christmas Disease. Causes problem with blood clotting. X LINKED RECESSIVE meaning only boys have it and only girls can pass it on. Can be mild moderate or severe.

Becker muscular dystrophy

Slow progressive muscle weakness first affecting the legs and pelvis. X LINKED RECESSIVE. Less severe than Duchennes, very individual, life expectancy 40-50

Duchenne muscular dystrophy

Severe form of muscular problem usually onset in early childhood. X LINKED RECESSIVE. Life expectancy early 30s.

Fragile X

Causes intellectual disability and characteristic facial features. A common cause of autism. X LINKED DOMINANT, so females can be affected also.

Turner's syndrome

X0. Only one working copy of the X chromosome. Girls with webbed necks, short stature, usually normal intelligence. Infertile.

Klinefelter Syndrome

XXY. Males with an extra X. Causes infertility and small testicles. Intelligence usually normal.

Infertility bloods

FSH/LH day 1-5 of cycle


Progesterone 7 day before period


Chlamydia/rubella serology

UKMEC BMI

Over 35 is UKMEC 3


30-34 is 2

UKMEC smoking

If over 35 and smoking, UKMEC 3


if under 35 and smoking, UKMEC 2



Need to have stopped for Over 1y to reduce

UKMEC Migraine

Migraine with aura, UKMEC 4


without aura, UKMEC2, unless it starts after starting the pill, where it's a 3

UKMEC VTE FH

If VTE in family aged over 45, UKMEC 2.


if VTE in family under 45, UKMEC 3

UKMEC BP

If over 140/90, UKMEC 3


Remains UKMEC 3 if then well controlled

UKMEC breast cancer FH

FH of breast cancer UKMEC 1 (unless BRCA positive in which case UKMEC 3)

UKMEC breastfeeding

Can restart COCP after 6w

UKMEC postpartum

3-6w can use COCP only if no other risk factors for VTE

Emergency contraception: coil vs oral

If less than 5 days ago, and is now less than 5 days after earliest likely date of ovulation, advise Coil.


Unless, they've had other UPSI in same cycle (may need pregnancy test and then Oral EC)

Emergency contraception: oral choices


If less than 96h, use Levonorgestrel. If BMI over 26 or weight over 70kg, double dose. Quickstart contraception.If between 96h and 120h, use Ulipristal. Wait 5 days, then start contraception.



If between 96h and 120h, use Ulipristal. Wait 5 days, then start contraception.

Smear test

Start at 25


Every 3 years until 49


Every 5 years 50-74

Breast cancer screening

50 to 70 every 3 years


Can be requested after that


1 in 25 get called back. 1 in 4 of those get diagnosed with Ca.

Breast cancer FH

1x 1st degree under 40


1 1st/2nd of any age


3 2nd degree relatives


Bilateral breast ca


1st degree male breast ca


Jewish ancestry


Ovarian cancer

Quickstart contraception

Ok if in days 1-5 of period.


If after this, needs additional contraception for 1 week

When can a pregnancy test exclude pregnancy?

After 21 days

Stage 2 HTN

Clinic BP over 160/100


Home BP over 150/95

Stage 2 HTN

Clinic BP over 160/100


Home BP over 150/95

Pelvic Inflammatory Disease

Refer all patients/contacts to GUM clinic


Metronidazole 400mg BD +Doxycycline 100mg BD for 14 days


Bacterial Vaginosis

Metronidazole 400mg BD for 7 days

Chlamydia

Azithromycin 1g STAT


OR, Doxycyline 100mg BD for 7 days (14 if PID)

Chlamydia

1g azithromycin.


Or doxycycline 100mg BD

Down's Screening

risk age 20 = 1/1500, age 30=1/800, age 40=1/100


11-14w check; Combined Test. Calculated using maternal age, hormone levels, and nuchal fold. If "High Risk" i.e less than 1.150 chance, goes on to Chorionic Villous Sampling or Amniocentesis.