Anaemia in pregnancy

Col Sanjay Singh

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Why is this topic important to you?
Theory paper
Q1. Define anemia in pregnancy? Discuss iron metabolism? What are the
causes of iron deficiency anemia during pregnancy? What are the effects
of anemia on pregnancy? How can it be prevented? How will you manage
a case of iron deficiency anemia at 30 weeks period of gestation?
Management means evaluation and treatment
Q2. Short Note: Iron sucrose, evaluation of a case of anemia during
pregnancy, implication of having thalassemia during pregnancy
Table viva: Iron tablet, Inj Iron sucrose, Tab Folic Acid, Inj Iron dextran
Long case: Pregnancy with anemia

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 Erythropoesis

• In Bone marrow
• Stages=Pronormobast-Normoblast-Reticulocyte-Non nucleated
erythrocyte
• Average Span-120 days
• Nutrients needed for erythropoesis-
– Minerals-Iron, Cu, Cobalt (Hb Synth)
– Vitamins-FA,B12,Vit C (Nuclear Protein Synth)
– Protein (Globin Moiety Synth)
– Erythropoietin (stimulates stem cells)

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Sickle cell disease is caused by
a mutation in
the hemoglobin-Beta gene
found on chromosome 11

Mutations in at least five genes

cause hereditary spherocytosis.
These genes provide instructions
for producing proteins that are
found on the membranes of red
blood cells. These proteins
transport molecules into and out
of cells, attach to other proteins,
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and maintain cell structure
 How do you define anaemia in
pregnancy?

• Centre for Disease Control and Prevention-Ist

& last trimester-11gm,2nd trimester-10.5gm%
• WHO-11gm%
• FOGSI-10gm%

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What do you mean by pallor? Are the two
terms Anaemia and Pallor
Interchangeable?

• Anaemia is a pathological state

• Pallor is the clinical manifestation

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What are the different sites to look for
pallor?
• Lower palpebral conjunctiva
• Tip & dorsum of the tongue
• Soft palate
• Nail beds
• Palms & soles
• General skin surfaces

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 What are the clinical grades of
anaemia and how would you assess?

• Mild, Mod, Severe-may not corroborate with

lab finding of Hb%
• Arbitrary gradings are (WHO) -
Mild-10-10.9gm%
Mod-7-<9.9gm%
Severe-<7gm%

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 Effects of anaemia on pregnancy?
During pregnancy
Preterm labour, PIH, Abruptio placentae, Intercurrent Infection,
Ht Failure

During labour
Uterine Inertia, PPH, CCF, SHOCK

During Puerperium
Puerperal sepsis, Sub Involution, Poor Lactation, Puerperal venous
thrombosis
20% Maternal Death

Effects on Baby
Preterm baby, Low birth weight, IUD
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What are the risk periods for cardiac failure in
pregnancy with severe anaemia?

• Around 30 weeks ( 40% increase in CO)

• During labour ( 50% increase in CO)
• Just after delivery ( 80% increase in CO)
• First 7 days puerperium

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 What are the clinical features of
anaemia?
Symptoms
Tiredness/exhaustion/weakness/fatiguability
Giddiness
Palpitation, breathlessness
Swelling of legs
Signs
G/E: Pallor, edema, koilonychia, glossitis, angular
stomatitis
S/E: cardiomegaly, systolic murmur, splenomegaly

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 G/E

OEDEMA

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 What is the incidence of anaemia in
pregnancy?

• 40-80% in developing countries, 20%-developed

• India as per NFHS-3---58%
• Globally-42%
• Commonest medical disorder during pregnancy

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 What are the important causes of
anaemia and how are they classified?

• “Physiological” anemia of pregnancy

• Pathological anemia of pregnancy
– Nutritional Deficiency anemia
• Iron-commonest
• Folic acid Megaloblastic anaemia
• B 12 deficiency
– Haemorrhagic anemia
• Acute
• Chronic

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– Hemolytic anemia
Heriditary -Hemoglobinopathies-Thalassemia, Sickle cell
-Spherocytosis
Acquired- Malaria

-Miscellaneous Causes
Bone marrow insufficiency-Aplastic
Neoplam
Anaemia due to chronic infection
CRF

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 Most common causes of anaemia in
pregnancy?

• Deficiency anemia ( Developing countries) and acute

blood loss are two common causes of anemia in
pregnancy

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 What do you mean by physiological
anaemia of pregnancy?

• During pregnancy, there is a disproportionate

increase in plasma volume and RBC mass
• Plasma volume increases by 40% but RBC
mass increases by only 20%, causing
hemodilution and apparent fall in Hb

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 Characteristics of physiological
anaemia
• Normal value of the physiological anemia is
(criteria):
Hb-10 gm%, PCV-32%
RBC-3.2million/mm3
PBS-NCNS

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 What is negative iron balance (NIB) during
pregnancy? Does normal balanced diet cater for it?

• NIB occurs due to excess demand of Iron

• Normal balanced diet does not cater for it
• Usually a def of 2gm% of Hb occurs at term in
relation to level of first trimester

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 Iron metabolism-Absorption
• Stomach- Ingested Iron Fe+3
HCL & Vit C
Fe +2
• Only 10% of iron is absorbed in
• Duodenum & Jejunum-Fe +2
Fe+3 + Apoferritin=Ferritin
• When apoferritin gets saturated absorption is
inhibited –mucosal block

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 Iron metabolism-Transport
• IRON from duod mucosal cells
Released in plasma in Fe3+ form
• In plasma Fe+3 + Transferrin
• In plasma there is sufficient transferrin to bind
360ugm of Iron /dl—TIBC
• In normal condition-only 120ugm/dl of iron binds
with transferrin
• Only 1/3rd of Transferrin is saturated n 2/3rd
remain unsaturated
• IDA-Serum iron levels drop and TIBC increases
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Iron metabolism

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 Distribution of body iron
• Hb-70%
• Tissue Iron-
-Stored in RE system -26%-(liver, spleen & BM) as ferritin (Sol 2/3) & Insol
(1/3) as haemosiderin-derived from ferritin on prolonged
storage/overload-haemosiderosis-tissue damage. Store depletes in IDA.
300mg
-Essential tissue iron-3.9%-as myoglobin in muscles & enzymes in cellular
resp. 100-300mg.
• Plasma Iron-(0.1%)-bound to transferrin-whose function is to
transport from absorption site to other places. 3-4mg.

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Distribution of body iron

•Total Iron
•Hb70%
•Stored in RE cells 26%
•Myoglobin 3.9%
•Tissue enzyme

•Plasma Iron bound to transferrin .1%

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 What is the importance of serum
ferritin level?

• Good indicator of the adequacy of stored body

iron

• Another useful predictor of Iron storage is-

staining of BM for iron containing histiocytes

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 Sequel of Iron deficiency
Iron Def

Depletion of Stored Iron (Low serum ferritin & stainable Iron in BM)

Decline in circulating iron (Low serum Iron & transferrin saturation, Inc TIBC)

Effect on Hb, myoglobin, tissue enzyme

• Impaired work performance

• Brain function
• Immunocompetence

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Sequel of Iron deficiency

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 Daily Iron requirement

• Adult male-1mg
• Adult female-1+1mg=2mg (to replenish
menstrual loss of 30mg/cycle)

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 Iron requirement during pregnancy
• Single Pregnancy Maternal Need (during antenatal period)
– Fetus & Placenta - 300 mg
– Mat Hb mass expansion (Inc RBC Vol) - 500 mg*
– Obligatory losses (gut,urine,skin) - 200 mg
TOTAL - 1000mg(Takes 2 year to replenish)

*
• Inc RBC Vol -450ml
• 1ml RBC contain 1.1mg iron
• 450ml=500mg iron

Twin gestation - 600 -700 mg extra

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 But the pregnant women saves some
blood because of amenorrhea? What
about that?

– Saving due to amenorrhea = 30ml/cycle i.e.300 mg

– Blood loss at delivery & rqt during breast feeding

=300 mg

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Why in spite of balanced diet containing
adequate iron extra iron is required?

– A balanced diet contains 15-20mg of

elemental iron and only 10% is absorbed. So
it meets only daily reqt (1.5-2mg) and not
the extra iron reqt
– Thus extra iron is required

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How much & when the iron is required
to be supplemented?

– All Iron (1000mg) is used during later half of pregnancy (140 days)
– Hence iron rqt during later half of preg is (1000mg 140
=6-7mg/day)
– Oral iron tab contains-60mg elemental iron. 10% is absorbed.
This (60 10=6mg) meets the extra requirement

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How do you screen for anemia and how
often do you do Hb% estimation?

• Centre for disease control and prevention (CDCP)

recommends screening and universal iron
supplementation to maintain maternal iron store
• Done by Hb% estimation
• First visit. 28 & 36 weeks

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What will happen to fetus if mother is
not supplemented with iron?

• The fetus does not suffer from anemia as iron tfd to

fetus from anemic mother is same as that of non
anemic mother
• Iron stores are less-so later on develops neonatal
anemia

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 Why is iron deficiency anaemia so common in
pregnancy, particularly in a country like India?

• Decreased dietary intake-inadequate diet-poverty, Vegetarian

diet, Nausea & vomiting of pregnancy
• Decreased absorption- Diarrhea, Malabsorption, Hypochlorhydria
• Increased iron losses-Sweating in tropics, Menorrhagia, Hookworm
infestation (0.2 ml/worm per day), Haemorrhoids, Malaria

• Increased iron demands during pregnancy

As discussed above + Multifetal gestation, Teenage pregnancy

• Inadequate storage of Iron-Rapid succession of pregnancies

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Purpose of investigations in a case of
anaemia?

• Determine
- severity of anemia
- type
- aetiology of anemia

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– Haematologic indices
• MCV = PCV / RBC count : (N) = 75 -99 fl
• MCH = Hb / RBC count : (N) = 27 -31 pg
• MCHC = Hb / PCV : ( N ) = 32 -36 gm / dl
• MCHC most important parameter for iron def anemia

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 How to do that?

• Severity of anemia-Hb estimation

• Aetiology of anemia-History, Clinical exam, Haematological
exam, stool & urine R/E, BM biopsy
• Type of anemia-PBS, blood indices

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 Investigation parameters
• Hb%, PCV, TLC, total RBC, P/C
• Blood indices-MCV, MCH, MCHC
• PBS- RBC morphology, reticulocyte, MP
• Serum values- Serum ferritin level, serum Iron
conc, TIBC, transferrin saturation
• Urine & stool R/E
• BM biopsy-rarely needed
• For abnormal Hb- Hb electrophoresis

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 Diagnostic features of IDA on lab
investigations

• In IDA
LOW-Hb%, RBC count, PCV, MCV, MCH,
MCHC, Serum Iron, serum ferritin, transferrin
saturation
High-TIBC

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 Diagnostic features of IDA on lab
investigations
• Hb% -<11g% ( 11-14-WHO)
• RBC<4 million/mm3 (4-4.5)
• PCV <30%(32-36)
• MCHC<30%(30-35)
• MCH<25pg (26-31)
• MCV<75u3(75-95)
• Serum Iron<30ug/100ml(65-75)
• Serum ferritin<12ug/L(15-300)
• TIBC Elevated->400ugm/ml(300-400)
• Transferrin saturation-Serum Iron/TIBC=<15% (25-50%)
• BM-decrease in stainable iron in BM-depleted iron store

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Characteristic finding of IDA on PBS
• Microcytic
• Hypochromic
• Anisocytosis (unequal size)
• Poikilocytosis (abnormally shaped) -target cell and pencil
shaped cells

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How can you prevent IDA in pregnant
women?
• Health education regarding birth spacing and
family planning
• Awareness about need of iron supplementation
• Dietary advice
• T/T of pathological condition which cause
anemia
• Regular Hb estimation - booking visit and at 28
week & at 36 weeks (late 3rd tri)

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 How would you supplement iron
during pregnancy?

• WHO-60 mg elemental iron & 50ugm of FA

• GOI-100mg of elemental iron and 500ugm of
folic acid daily for 100 days during pregnancy
starting from 14-16 weeks of gestation.
Same dose for 100 days in the post partum
period

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 What diet would you suggest to prevent and treat
anaemia during pregnancy?

• Balanced diet
-erythropoietic factors-proteins, vitamins, essential nutients &
minerals
- proper amount of Protein, carbohydrate & fat
-green leafy veg, meat, poultry, fish, eggs, nuts, ground nuts,
pulses, jaggery, black gram, ragi & whole grains

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 Vegetables and fruits which are rich
source of iron?

• Amla, lotus roots, green veg like spinach, mustard, fenugreek,

cabbage, mint & coriander

• Fruits-Guava, orange, date, apple, pomegranate, banana, figs, jiggery

RICHEST SOURCE?????

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Would you like to admit all pregnant
women with anemia?

• No
• Mild to Mod –OPD
• Severe-admit

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 How would you treat IDA in
pregnancy?
• T/T of the condition leading to anemia
• Balanced diet
• Iron therapy-Oral/Parenteral
• FA, B12, Vit C in required amount
• Blood transfusion when indicated
• Recombinant erythropoietin to stimulate erythropoiesis. Comb of rhEPO & PE
Iron> PE Iron alone

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 Oral Iron or parenteral iron therapy
–which one is preferred & why?
• Oral administration preferred over
• Parenteral
-Serious adverse effects, needs assistance &
supervision
-Rate of increase of Hb is same
-Only advantage-certainty of compliance & it
bypasses intestinal absorption

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What is the therapeutic regime of iron
in IDA?
GOI-2013
• 8-11gm-Two IFA tab (Morning & Evening)
• <8gm%-Parenteral therapy

One IFA tab-100mg elemental iron & 500ugm FA

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 Type of oral iron preparation with their
composition (ACOG 2006)

Preparation Composition

Ferrous sulfate 65 mg elemental iron/325mg tablet

(sup in absorption but gastric intolerance
is more)
Ferrous fumerate 106 mg elemental iron/325mg tablet
(Least toxic due to its slow solubility after
absorption)
Ferrous gluconate 34 mg elemental iron/300mg tablet

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 What advice and precautions to be
taken in oral iron therapy?
GOI-2013
• Doses to be taken as per regime, regularly and must
complete the t/t
• Ideally to be taken in empty stomach for better absorption
• In case of gastritis (nausea& vomiting) to be taken one hour
after meal or at night
• In case of constipation-more fluid, add roughage to diet
• IFA not to be taken with tea, coffee, milk or calcium
• IFA tab should always be supplemented with diet rich in
iron, vitamins( Vit C), protein, minerals and other nutrients

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 What are the disadvantages of oral
iron therapy?

• Intolerance-nausea, vomiting, epigastric pain,

diarrhea, constipation
• Non compliance-a major problem
• Defective absorption

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 Which food products interfere with
iron absorption?

• Tea, coffee, milk, dairy products, red wine

• Cereals, soya products, spinach
• Calcium, fats

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 Which food products help in iron
absorption?

• Sugar, vineger
• Vegetables except spinach, fruit, fruit juice
• Fish, meat, poultry

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Inhibitors & facilitators of Iron absorption
• Inhibitors
– Phytates
– Phosphates (foods high in protein)
– Tannins (tea )
– Dietary fibre
– Antacids
• Facilitators
– Ascorbic acid
– Fructose / Maltose
– Cysteine
– Amino acid

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 How will you understand that the
patient is responding adequately?

• Clinical improvement
• Reticulocytosis starts at 3-5 days of initiation
of t/t—peaks after 8-10 days—then
decreases.
• Rise in Hb become evident after 3 weeks
Rate of improvement of Hb%-0.7gm% / week
(2gm in four week)which ever route is used.

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What may be the cause of t/t failure of
oral iron therapy?
• Non compliance
• Defective absorption-enteric coated, antacid,
coeliac disease
• GI disease- crohn’s disease, ulcerative colitis
• Incorrect diagnosis-b-thalassaemia
• Undetected blood loss-piles, hook worm
• Co-existing disease-CRF, UTI
• Other dietary deficiency
• Drugs that diminish erythropoiesis- cytotoxic
drugs, immunosuppressant

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 What is iron fortification?
• Iron fortified in common diet
• Ferrous sulfate, Ferrous fumerate, Na Fe EDTA
• Good for non compliant but intolerant
patients

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What are the indications of parenteral
iron therapy?
• Intolerance to oral iron
• Poor compliance
• When absorption is not
ensured-malabsorption syndrome
• Concomitant intake of any medicine which
interferes with iron absorption

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 Compounds available for iron therapy
Preparation Composition Route of administration

Iron dextran 50mg elemental iron/ml IM/IV

(Imferon)-Severe (2ml,5ml)
anaphylaxis
Ferric gluconate 12.5mg iron/ml IV
Iron sucrose 20mg/ml (5ml) IV
Iron sorbitol citric acid 50mg/ml (2ml) IM
complex (Jectofer)
Ferric carboxymaltose 50mg/ml=750mg/15ml IV

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 Which drug is preferred today for parenteral
therapy? What about other drugs?

• Ferrous sucrose-relatively new-safer-preferred

• Iron dextran & Iron sorbitol-not popular-more S/E &
anaphylaxis than Iron sucrose
• Iron dextran- severe anaphylaxis and even death (.5-1%)

• Ferric carboxymaltose-IV in bolus dose over 15

minutes that reduces the need of repeated infusion

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Calculation of total dose requirement
for parenteral therapy-Iron sucrose

• Total iron requirement in mg= Wt in kg x (Ideal

Hb-Actual Hb) x 2.21 + 1000
Ideal Hb is considered as 14gm/dl
• Alternate method is-250mg elemental iron x Hb%
deficit
• The calculation is based on Hb deficit, deficit in body iron, replenishing
the iron store

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 Procedure of administration of Iron
sucrose (daily or A/D IV)

• Only IV
• 20mg/ml-5 ml vial
• Total dose (TDI) can not be given at a time
• Diluted with 100ml .9% saline solution
• Initially 25-50mg given slowly IV to check tolerance
• 100-200mg of elemental iron given daily or every
second day

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Procedure of IM injection (Imferon or
jectofer)

• Required total dose is calculated first

• After an initial dose of 1ml, 2 ml injections are
given daily or on A/D by Z technique
• Oral iron therapy should be suspended 24
hours prior to iron sorbitol therapy, because
fraction of iron sorbitol gets bound with transferrin and adequate free
transferrin must be available. Otherwise their may be reaction.

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 Side effects of iron sucrose

• Most common is headache

• Nausea, vomiting, local skin reaction-very less
• Anaphylactic reaction & hypotension-rare

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What precautions would you take for
parenteral therapy?

• To be done under supervision

• Done only after test dose
• Resuscitative measures for anaphylaxis-Inj
adrenaline, hydrocortisone, O2-at hand
• CPR facility should be available

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 Disadvantages of IM therapy

• Skin staining
• Abscess formation
• Painful
• Anaphylaxis

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What are the indications of blood
transfusion?

– Severe anaemia in late pregnancy

– To correct anaemia due to blood loss
– To correct refractory anaemia
– Haemolytic anaemias
– Cardiac failure due to severe anaemia
– Patients with anaemia requiring surgery

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 Issues while an anaemic mother is in
labour?
Less O2 carrying capacity
Approx 600ml blood –each uterine contraction
Pain & anxiety –increased adrenergic activity

Overload over heart

• CCF

• Less tolerance for blood loss

• Infection

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 Obstetric management
• First stage
– Oxygen inhalation / Pulse oximetry
– Analgesia (Pain may ppt CCF)
– Asepsis
– Blood transfusion facilities standby
• Second stage
– Avoid prolongation of labour
• Third stage
– Consider active management
– Replace blood loss if excessive

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 Puerperium
• Not to be left alone (CCF, PPH)
• Hygiene and asepsis to avoid infection
• IFA supplementation/ Inj Carboxymaltose
• Contraception

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Megaloblastic anemia

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What do you mean by megaloblastic
anemia?

Def of B12 or FA or both

Impairment of DNA synthesis

Defective cell maturation

Production of abnormal precursors & megaloblasts in BM

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 What is the cause of megaloblastic
anemia?

• Due to def of B12 or FA or both

• During pregnancy it is almost due to FA

WHY????

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 Why????

• Normal FA store is sufficient for only 6 weeks

• Because of abundant B12 stores in
liver-clinical Vit B12 def takes several years to
occur

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What kind of food contain Vit B12?

• Source of B12 -Every thing that walks, swims or flies

contains Vit B12. Nothing that grows out of ground
contains Vit B12.
• Mainly meat & liver
• Fish, egg, milk-some amount

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 What is the requirement of B12 in a
woman?

• 2ugm –non pregnant, 3ugm-during pregnancy

• Normally non veg diet meets this demand
• Those on pure veg diet needs supplementation

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 Common causes of B12 def
• Strict Veg diet
• Gastrectomy, gastritis
• Ileal bypass, chrons disease
• Drugs-metformin, PPI

• (
Addisonian pernicious anemia due to lack of IF secreted by parietal cells )--
extremely rare autoimmune disease during pregnancy
because - usually occurs after 40yrs, if occurs early produces infertility
• For B12 absorption (occurs in ileum) requirements are-Stomach acid pepsin, IF from parietal
cells, pancreatic proteases, Intact ileum & mucosal receptors
• Because of abundant B12 stores in liver-clinical Vit B12 def takes several years to occur

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 Which food are rich in FA?

• Fruits & fresh green veg-large amount

• Fish, egg, cereals-less amount
• Milk-No FA

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What is the daily requirement of folic
acid?

• 50-100ugm-nonpregnant state, 400ugm

–pregnancy
• FA supplementation is needed during
pregnancy

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 Lab indices of megaloblastic anemia
• Low-Hb% (<10gm%)
• MCV- high(>100u3), MCH-high, MCHC- normal
• Associated leucopenia & thrombocytopenia
• Serum FA-low(<3ng/ml)
• Serum B12-low(<90pg/ml)
• Serum iron-normal/high

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 PBS of megaloblastic anemia
• Macrocytes –MCV->96um3
• Megaloblasts
• Howell-Jolly bodies
• Hypersegmentation of large sized neutrophils
(5 or more lobes)
*Atleast two of the above should be present to confirm the diagnosis
Reticulocyte index is low, TLC & PC may be low

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What are the bone marrow changes in
megaloblastic anemia?

• Plenty of megaloblasts are present

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 What are the causes of macrocytic
anemia?

• Megaloblastic: FA, B12 def & pernicious anemia

• Non megaloblastic: Alcoholism, aplastic anemia,
myelodysplasia, liver disease, hypothyroidism

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 How will you diagnose macrocytic
anemia?

• MCV>96um3 (Level >115um3 seen in FA &

B12 def)
• Serum FA & B12 -low

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What are the effect of FA deficiency on
pregnancy?

• C/F almost same as IDA

• Abortion, prematurity
• Abruptio placentae
• NTD, cleft lip & palate

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 What is the t/t of megaloblastic
anemia in pregnancy?
• Food rich in FA
• 4 mg of FA & Iron supplementation.
• Dramatic response in seven days

• B12 def extremely rare during pregnancy.

B12 def seen in-partial/complete gastric resection,

Crohn’s disease, ileal resection.

Pt with total gatrectomy-1000ugm of B12 IM monthly.

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 What is the prophylactic therapy for
folic acid?

• 400ugm FA daily to all pregnant women

• FA 4mg daily if demand is very high (multiple

preg, hemoglobinopathy, chronic infection, anti
convulsant therapy)

• Women with h/o infant with NTD-4mg -FA one

month prior to conception till 12 weeks of preg

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Conditions when increase in demand
of FA occurs

• Multiple pregnancy
• Infection
• Anticonvulsant therapy

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 What will happen when only iron is
given in FA deficiency state?

• Addition of iron will cause hyperplastic bone

marrow, which will further cause def of FA
• Megaloblastic character will be thus more
prominent

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 What is dimorphic anemia?
• Anemia due to def of both Iron & FA/B12
• Commonest type of anemia in tropical
countries
• PBS-RBC-Macrocytic/Normocytic
-Hypochromic/Normochromic
• Bone marrow-mostly megaloblastic
• T/T-Iron & FA in therapeutic doses

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Haemoglobinopathies

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 Structure of Hb
• Haem + globin
• Hb is composed of 4 haem moieties
• Globin fraction contains 4 polypeptide chains
• There are 4 variants of polypeptide
chains-a,b,v,d

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Types of Hb in normal adult blood

• Adult Hb (HbA) contains 2a & 2b chains(a2b2)

• HbA2 is another type of adult Hb with 2 a & 2d
chains(a2d2)
• Fetal Hb contains 2a & 2 v chains (a2v2)

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• Normal adult blood contains
HbA-97-98%,
HbA2-2-3%,
Hbf-<1%(NBB-70-80%)

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 Hemoglobin Types

Hemoglobin Type Globin Chains

• Hgb A1—92%--------- ● α2β2
• Hgb A2—2.5%-------- ● α2δ2
• Hgb F — <1%--------- ● α2γ2
• Hgb H ------------------ ● β4
• Bart’s Hgb-------------- ● γ4
• Hgb S-------------------- ● Α2β2 6 glu→val
• Hgb C------------------- ● Α2β2 6 glu→lys

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 What are different types of
haemoglobinopathies?

• Commonly two types:

-Strucutral abnormality of polypeptide chain of globin fraction-SCd
-Reduced synthesis of globin fraction in otherwise normal
adult Hb-Thalassemia

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 What are the types of thalassemias?

• Alfa -Chromosome16-2 genes on each

- minor & major
• Beta -Chromosome 11-one gene on each
- minor & major

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 What are homozygous &
heterozygous?

• HETEROZYGOUS: Abnormal chain comes from

one parent --- the woman is carrier
• HOMOZYGOUS: Abnormal chain inherited
from both parents -- the woman is anaemic

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 What is the incidence of thalassemia in
pregnancy?

• 1 in 400 of all pregnancies

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What are the fates of a- T Major & b-T
Major?
• a-thalassemia major is not compatible with life
• b-thalassemia major woman does not survive beyond teens (transfusions,
iron overload, CCF, infection, impaired growth)- hence pregnancy is
uncommon

Four deletions—α Thal

Major-Bart’s Hg(4 γ chain) and Hb
H(4 b-chain) are formed; Hydrops
Fetalis; death in Utero or early
neonatal death
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What are the fates of a- T Minor & b-T
minor?

• Pregnancy is well tolerated and pregnancy

outcome is usually good in both
• Inc incidence of IUGR, preterm, Still birth

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 Diagnosis of thalassemia during
pregnancy
• Family h/o thalassemia
• H/O birth of baby with thalassemia in previous
pregnancy
• Persistent mild variety of anaemia not responding to
iron therapy
• Splenomegaly with anemia
• Low MCV, Low MCH, but normal MCHC (In IDA all are
LOW)
• Serum Iron or TIBC-normal or elevated
• Hb electrophoresis-Hb A2 is raised to 5%, Hb F normal
or raised

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 Treatment during pregnancy
• Regarded as high risk pregnancy
• Oral FA is given
• Iron supplementation is given only if IDA is
present
• Blood transfusion may be needed.

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Thalassemia & genetic counselling
• Autosomal recessive disease
• If one partner is minor-50%Fetus-T minor
• If both partners are T minor-Fetus-1n 4 chance of T
major
• Woman-T major, Husband-normal-Fetus-25% chance
of normal, 50% chance of T minor
• If woman T Major & husband minor-Fetus-50% chance
of T major
• Antenatal diagnosis-CVS, amniocentasis
• PGD for blastomere is possible to select unaffected
embryo in ART programme

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 Thalassemia & genetic counselling
(Autosomal recessive disease)

TT Tt

TT Tt TT Tt

TT tt

Tt Tt Tt Tt

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Thalassemia & genetic counselling

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• Antenatal diagnosis-CVS (11-12weeks),
amniocentesis (16-18 weeks)
• DNA mutation of fetal tissue is checked-if b-T
homozygous major-MTP
• PGD for blastomere is possible to select
unaffected embryo in ART programme

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How to diagnose fetal b-thalassemia?

• It can be done by
-CVS-11-12weeks
-amniocentasis-16-18weeks
- DNA mutation of fetal tissue is checked-if b-T
homozygous major-MTP

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Thank you

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