pregnancy with beta thalassemia

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Pregnancy with beta thalassemia Dr. Mamuni Sultana Registrar Department of Obs. & Gynae Khulna Medical College Hospital

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Page 1: Pregnancy with beta thalassemia

Pregnancy with beta thalassemia

Dr. Mamuni SultanaRegistrar

Department of Obs. & GynaeKhulna Medical College Hospital

Page 2: Pregnancy with beta thalassemia

Particulars of the patient

• Name : Mrs. Lipica• Age : 25 years• Religion : Shanaton• Occupation: Housewife• Socioeconomic condition: Middle class• Address : Pabla, Doulotpur, Khulna• Husband Name : Mahafuz Mollah• Date of admission : 10/06/15• Date of examination : 10/06/15

Page 3: Pregnancy with beta thalassemia

Chief complaints

1. Amenorrhoea for 38 weeks. 2.Less fetal movement for 1 day 3. Known case of beta thalassemia major for 9 years.

Page 4: Pregnancy with beta thalassemia

History of present illness According to the statement of the pt. she was amenorric for 38 wks. Her pregnancy was confirmed by urine test. She was in regular antenatal check up and was duly immunized . Her pregnancy was uneventful up to 16 wks. Then she developed generalised weakness and anorexia. For this reason she took 3 units of blood transfusion after getting admission in Obstertric department

Page 5: Pregnancy with beta thalassemia

During her subsequent antenatal check up she received total 10 units of blood after getting admission total 3 times in KMCH. She was non diabetic & normotensive.

Page 6: Pregnancy with beta thalassemia

History of past illnessShe had ill health, generalized weakness and

pallor since her childhood and took 3 units of blood at her 15 years of age and diagnosed as a case of beta thalassemia major in 2006. Science then she took blood transfusion several time including during and after her previous pregnancies.

Page 7: Pregnancy with beta thalassemia

Family HistoryNo history of consanguinous of marriage. Neither her family members nor her husband was investigated for thalassemia or other hemoglobinopathies.

Page 8: Pregnancy with beta thalassemia

Obs. History Married for: 12 Years Para: 2(VD)+0 Gravida: 3rd Age of last child: 5 yearsNone of them was investigated for thalassemia or other hemoglobinopathies.

Menstrual history MP/MC: Regular MF: average L.M.P: 17/09/14 E.D.D: 24/06/15

Page 9: Pregnancy with beta thalassemia

General examination•Appearance- Anxious, ill looking•Body built- Below average •Anaemia- Mild•Jaundice- Absent•Cyanosis- Absent•Oedema- Absent•Dehydration- Absent•Temperature- Normal( 98 F)•Pulse-68/min•B.P-120/70 mmHg•Height- 4 feet 8 inch

Page 10: Pregnancy with beta thalassemia

• Thyroid gland- not enlarged• Lymph node- not palpable• Breasts- shows normal pregnancy changes.• Cardiovascular system- reveals no abnormality• Other systems- Seems to be normal.

Page 11: Pregnancy with beta thalassemia

Per abdominal examination FH- 36 wksF.M- presentPresentation- CephalicLie- LongitudinalLiquor- Seems to be less than adequateF.H.R- 140 beats/min

Page 12: Pregnancy with beta thalassemia

Per vaginal examination• Cervix- Soft, posterior• Os- Parous• Station- High up• Membrane- Intact• Pelvis – Seems to be adequate

Page 13: Pregnancy with beta thalassemia

Clinical diagnosis

3rd Gravida 38 weeks pregnancy with thalassemia major with IUGR with oligohydramnios

Page 14: Pregnancy with beta thalassemia

InvestigationsIx Date Value

Hb% 03.02.15 4.9 gm/dl

11.03.15 7 gm/dl

13.04.15 6.9 gm/dl

PBF 03.02.15 Hemolytic anemia

S. ferritin level 09.02.15 260 ngm/ml

USG of pregnancy profile

08.02.1511.03.15

HepatospleeenomegalyIUGR with Oligohydramnios

Page 15: Pregnancy with beta thalassemia

Obstetric managementLUCS with BLTL done on 11.06.15 due to3rd Gravida 38 weeks pregnancy with thalassemia major with IUGR with oligohydramnios . Baby note: Sex: MaleWeight: 2 kgLiquor: LessApgar score: 18510

No visible congenital anomaly

Page 16: Pregnancy with beta thalassemia

Beta Thalassaemia

Epidemiology More than 70000 babies are born with

thalassaemia worldwide each year.100 million individuals asymptomatic thalassaemia carriers.

Page 17: Pregnancy with beta thalassemia

Previously, the community affected was principally from

• Cyprus • Mediterranean.

Page 18: Pregnancy with beta thalassemia

currently the Asian communities of

• India• Pakistan• Bangladesh account for 79% of thalassaemia births with only

7% occurring in the Cypriot population

Page 19: Pregnancy with beta thalassemia

The basic defect Reduced globin chain synthesis with the resultant

red cells having inadequate haemoglobin content.

Page 20: Pregnancy with beta thalassemia

Pathophysiology Extravascular haemolysis due to the release into the peripheral

circulation of damaged red blood cells and erythroid precursors because of a high degree of ineffective erythropoiesis.

β thalassaemia major homozygous thalassaemia results from the inheritance of a defective β globin gene from each

parent a severe transfusion-dependent anaemia. β thalassaemia trait (thalassaemia minor) heterozygous state, mild to moderate microcytic anaemia no significant detrimental effect on overall health.Thalassaemia intermedia group of patients with β thalassaemia whose disease severity varies.

Page 21: Pregnancy with beta thalassemia

Modern treatment• Splenectomy is no longer the mainstay of treatment• The cornerstones of modern treatment in β

thalassaemia are

Iron chelation therapy

Page 22: Pregnancy with beta thalassemia

stem cell transplantation The only treatment protocol that can cure

thalassemia is stem cell transplant. Transplant of blood and marrow stem cell can replace abnormal stem cells with healthy donor cells.

Page 23: Pregnancy with beta thalassemia

Experimental In-Utero Gene Therapy Researchers are striving to find new treatments

For instance gene therapy- to insert a healthy hemoglobin gene into stem cells in bone marrow. This would allow people to create their own normal red blood cells and Hb

Page 24: Pregnancy with beta thalassemia

Multi organ damage

Multiple transfusions cause iron overload resulting in dysfunction

• Hepatic

Page 25: Pregnancy with beta thalassemia

• Cardiac

Cardiac failure primary cause of death in over 50% of cases

Page 26: Pregnancy with beta thalassemia

• Endocrine

anterior pituitary • Puberty is often delayed and incomplete • Low bone mass• Subfertile due to hypogonadotrophic

hypogonadism require ovulation induction therapy with gonadotrophins to achieve a pregnancy

Page 27: Pregnancy with beta thalassemia

Risks to the mother and babyMother • Cardiomyopathy • Diabetes mellitus • Hypothyroidism • Hypoparathyroidism

Page 28: Pregnancy with beta thalassemia

Fetal • Fetal growth restriction (FGR)

• Intrauterine death

Page 29: Pregnancy with beta thalassemia

Beta Thalassaemia in Pregnancy

Preconceptual care

Genetic screening Screening for end-organ damage Optimisation of complications

Page 30: Pregnancy with beta thalassemia

Genetic screening If the partner is a carrier of a haemoglobinopathy

that may adversely interact with the woman’s genotype then genetic counselling should be offered.

Page 31: Pregnancy with beta thalassemia

In vitro fertilisation/intracytoplasmic sperm injection (IVF/ICSI) with a pre-implantation genetic diagnosis (PGD) should be considered in the presence of haemoglobinopathies in both partners

Page 32: Pregnancy with beta thalassemia

pre-implantation genetic diagnosis (PGD)

chorionic villus sampling

amniocentesis

Page 33: Pregnancy with beta thalassemia

Iron chelation therapy

prolonged period of iron chelation therapy may be required to control iron overload prior to both

• induction of ovulation• PregnancyAggressive chelation in the preconception stage

reduce and optimise body iron burden reduce end-organ damage

Page 34: Pregnancy with beta thalassemia

Pancreas• Diabetes is common in women with thalassaemia.

• Good glycaemic control is essential prepregnancy.• Women with established diabetes mellitus should

ideally have serum fructosamine concentrations < 300 nmol/l for at least 3 months prior to conception. This is equivalent to an HbA1c of 43 mmol/mol.

Page 35: Pregnancy with beta thalassemia

Thyroid

Thyroid function should be determined. The woman should be euthyroid prepregnancyHypothyroidism is frequently found Untreated hypothyroidism can result in maternal

morbidity perinatal morbidity and mortality.

Page 36: Pregnancy with beta thalassemia

Heart

• All women should be assessed by a cardiologist with expertise in thalassaemia and/or iron overload prior to embarking on a pregnancy.

Page 37: Pregnancy with beta thalassemia

Performed• Echocardiogram • ECG • T2* cardiac MRI.

Page 38: Pregnancy with beta thalassemia

Liver

Women should be assessed for liver iron concentration using a

• FerriScan® • Liver T2*.

Ideally the liver iron should be < 7 mg/g (dry weight) (dw).

Page 39: Pregnancy with beta thalassemia

Liver and gall bladder (and spleen if present) ultrasound to detect

• cholelithiasis • liver cirrhosis

due to iron overload or transfusion-related • viral hepatitis.

Page 40: Pregnancy with beta thalassemia

Bone density scanAll women should be offered a bone density scan to

document pre-existing osteoporosis. Serum vitamin D concentrations should be optimised with supplements if necessary.

Page 41: Pregnancy with beta thalassemia

Red cell antibodies

ABO and full blood group genotype and antibody titres should be measured

Page 42: Pregnancy with beta thalassemia

Medications should be reviewed preconceptually

• Iron chelators deferasirox and deferiprone ideally

discontinued 3 months before conception.

Page 43: Pregnancy with beta thalassemia

All bisphosphonates contraindicated in pregnancy and should ideally be

discontinued 3 months prior to conception

Page 44: Pregnancy with beta thalassemia

Immunisation and antibiotic prophylaxis

• Hepatitis B vaccination is recommended in HBsAg negative women who are transfused or may be transfused

• Hepatitis C status should be determined.

Page 45: Pregnancy with beta thalassemia

• All women who have undergone a splenectomy should take penicillin prophylaxis or equivalent.

Page 46: Pregnancy with beta thalassemia

• All women who have undergone a splenectomy should be vaccinated for

pneumococcus Haemophilus influenzae type b if this has not been done before

Page 47: Pregnancy with beta thalassemia

Supplements recommended• Folic acid (5 mg) is recommended

preconceptually to all women to prevent neural tube defects.

Page 48: Pregnancy with beta thalassemia

Antenatal care• Specialist input delivered for women with thalassaemia monthly until 28 weeks of gestation fortnightly thereafter • Both thalassaemia and diabetes monthly assessment of serum fructosamine • Specialist cardiac assessment at 28 weeks of gestation thereafter as appropriate.• Thyroid function should be monitored

Page 49: Pregnancy with beta thalassemia

Recommended schedule of ultrasound scanning

Viability scan at 7–9 weeks of gestation.

Routine first-trimester scan (11–14 weeks of gestation)

Detailed anomaly scan at 20 weeks of gestation.

Page 50: Pregnancy with beta thalassemia

Serial fetal biometry scans (growth scans) every 4 weeks from 24 weeks of gestation.

BPD AC FL

BPD AC FL

Page 51: Pregnancy with beta thalassemia

Transfusion regimen

• All women with thalassaemia major should be receiving blood transfusions on a regular basis aiming for a pretransfusion haemoglobin of 100 g/l.

• Transfuse every 2–5 weeks, maintaining pre-transfusion Hb above 9–10.5 g/dl, but higher levels (11–12 g/dl) may be necessary for patients with heart complications.

• Keep post-transfusion Hb not higher than 14–15 g/dl.

Page 52: Pregnancy with beta thalassemia

Antenatal thromboprophylaxis recommended

• Thalassaemia with splenectomy or platelet count greater than 600 x 109/l

Low-dose aspirin (75 mg/day).• Thalassaemia with splenectomy and platelet

count greater than 600 x 109/l Low-molecular-weight heparin as well as Low-dose aspirin (75 mg/day).

Page 53: Pregnancy with beta thalassemia

Optimum antenatal management of iron chelation therapy

Teratogenic• Deferasirox • Deferiprone

Desferrioxamine • Short half-life • Safe for infusion during ovulation induction therapy.• Should be avoided in the first trimester owing to lack of

safety data• Used safely after 20 weeks of gestation at low dose

Page 54: Pregnancy with beta thalassemia

Myocardial ironHighest risk of cardiac decompensation Low-dose subcutaneous desferrioxamine (20

mg/kg/day) on a minimum of 4–5 days a week from 20–24 weeks of gestation

Liver ironLow dose desferrioxamine iron chelation from 20

weeks.(liver iron > 15 mg/g dw as measured by MRI)

Page 55: Pregnancy with beta thalassemia

Intrapartum care

• Intravenous desferrioxamine 2 g over 24 hours should be administered for the duration of labour.

• Continuous intrapartum electronic fetal monitoring

• Thalassaemia in itself is not an indication for caesarean section.

• Active management of the third stage of labour is recommended to minimise blood loss

Page 56: Pregnancy with beta thalassemia

Postpartum care

• High risk for venous thromboembolism.low-molecular-weight heparin should be administered for 7 days post discharge following vaginal delivery6 weeks following caesarean section

• Breastfeeding is safe and should be encouraged.

Page 57: Pregnancy with beta thalassemia