difference b/w sickle cell anemia & Thalassemia

Question 1

genetic basis of sickle cell anemia and thalassemia

Answer 1

Autosomal recessive
Sickle cell anemia: Chromosome 16, In B globin chain: Amino acid change converts a glutamic acid (GAG) to a valine (GTG) leads to sickling
Thalassemia: Chromosome 11 (Alpha & beta)

Question 2

Alpha Thalassemia types

Answer 2

• Alpha Thalassemia major dies in utero,

- Alpha trait: asymptomatic b/c 2-3 chains normal, Only risk of anemia during pregnancy.

Question 3

Beta Thalassemia types

Answer 3

• Major: not compatible with life, regular transfusions, BMT, Iron overload
• Minor trait: like alpha thalassemia, almost asymptomatic, may need transfusions in pregnancy

Question 4

Sickle triggers for crises, which are characterized by vaso-occlusive attack due to sickling, endothelial damage by mechanical movement leads to vaso- occlusive, any organ or extremities, Raynaud’s
Abdomen: mesentric artery , autosplenectomy, retinal
& renal function problem, Stroke, TIAs, avascular necrosis of bones

Answer 4

• hypoxia
• infections
• stress
• Hypothermia
• Dehydration
• Exertion
  decrease frequency of above

Question 5

Preconception sickle cell anemia and thalassemia

Answer 5

• Partner to be checked

- Folic acid 5 mg (preconception + 1st trimester)

Question 6

sickle cell anemia crises, MX

Answer 6

TOP

>34 weeks - TOP

Question 7

sickle cell anemia and thalassemia mode of delivery, intrapartum MX

Answer 7

• vaginal superior in both
• CS may be in crises
• Avoid pethidine, b/c increase risk of fits. iseally paracetamol or morphine. Also NSAID avoided due to renal problem.
• After delivery: symptoms

Question 8

what is the benefit of sickle cell anemia

Answer 8

preventing trophozoit of malaria from attacking the cells

Question 9

preconception sickle cell anemia

Answer 9

Hydroxycarbamide (hydroxyurea) which used to decrease incidence of acute painful crises should be stopped at least 3 months before conception, b/c it is teratogenic.

• If prenant while takin, stop it, US for anamoly, but not TOP.
• ACE inhibitors & ARB stopped before conception.

Question 10

Antenatal care sickle cell anemia

Answer 10

• MDT (Obstetrician, Specialist midwife, anesthetist & hematologist)
• screen for end- oran damae if not preconception
• Avoid precipitating factor of sickle cell crises
• with persisting vomiting: seek medical advice, dehydration & crises.
• Influenza if not in previous year.

Question 11

sickle cell anemia medications can be given during pregnancy

Answer 11

• Folic Acid
• Iron if lab evidence of low iron
• Low dose aspirin: from 12 weeks (preeclamsia)
• Prophylactic LMWH & TED stockin on admission
• NSAID: 12- 28 weeks

Question 12

What additional care provided during antenatal appointment ?sickle cell anemia

Answer 12

• BP & urine analysiis each visit

- MSU for culture monthly.

Question 13

US schedule in sickle cell anemia

Answer 13

• Viability scan 7-9 wks
• routine first trimester 11-14 wks
• detailed anomaly 20 weeks
• serial growth every 4 weeks from 24 weeks.

Question 14

Rule for blood transfusion sickle cell anemia

Answer 14

• Routine prophylactic transfusion not recommended except twins.
• Blood matched for full rhesus typin (C, D & E) as well as K type.
• Alloimunization common in SCD, in 18 - 36 % pts
• CMV negative

No absolute level for transfusion depends on clinical, Hb < 6m%, fall >2/dl from baseline

Exchange transfusion for ACS , best practice.

Exchange transfusion also for acue stroke.

Question 15

antenatal appointments sickle cell anemia

Answer 15

question of part 3 examination

Question 16

Intrapartum care sickle cell anemia and thalassemia

Answer 16

• elective birth at 38 weeks, if not growth restricted
• not contraindication for VBAC,
• Blood crossmatch
• avoid dehydration, hypovolumia
• increase and unpredictable: abruption, peripartum cardiomyopathy, preeclampsia

Question 17

B thalasemia Major: transfusion every 2-4 weeks

Answer 17

• blood bourne infection
• iron overload
• chaning serum levels of disease montors

Question 18

B thalassemia major , preconception

Answer 18

• check partner
• Immunization
• folic acid supple
• Cardiac status & liver iron overload

Question 19

B thalassemia major, main cause of death in pregnancy

Answer 19

cardiac disease,

• 1 month to evaluated either Echocardiography or MRI,
• in exam what to choose:
• from down ward to upward: echo more suitable, initital step
• most accurate iron over load MRI
• According to GTT both to be done

Question 20

B thalasemia major: T 2 cardiac MRI

Answer 20

• > 20 m / second: normal
• < 10 m / second: iron overload, wait preconception until optimization
• Liver iron: < 7 m / sec, if more than 15 then prenancy should be postponed

Question 21

B thalasemia major: iron overload other lands

Answer 21

• bronze diabetes

- infertility b/c of affecting pituitary land

Question 22

B thalasemia major diabetes

Answer 22

fructosamine should be <300 n mol/l for 3 months before pregnancy = 4.3 Hb Aic