Westmead Hospital Topic Summary

2014 Version

Anaemia in pregnancy
Definition and Incidence
Anaemia
the reduction of red cell mass relative to plasma volume
measured in the quantity of haemoglobin per litre of blood volume
A haemoglobin level 110 g/L is defined as anaemia in pregnancy
One in ten pregnant women in Australia have a haemoglobin concentration of less than
100 g\L

Causes of Anaemia in Pregnancy

Acquired:
Fe-deficiency
megaloblastic- B12, folate
Blood loss
Inflammation/infection/malignancy- UTI
Acquired haemolytic anaemia- SLE, Pre-eclampsia, HELLP, AFLP
Aplastic/hypoplastic anaemia- bone marrow
Hereditary:
Sickle-cell haemoglobinopathies and others
Thalassemia
Hereditary haemolytic anaemias

Physiology

Plasma volume increases progressively throughout pregnancy and plateaus in the last
eight weeks
In a first pregnancy, plasma volume is increased by 1250 mL in singleton pregnancies
from the non-pregnant value of 2600 mL (i.e. ~40-45% increase in blood volume)
The red cell mass rises steadily between the end of the first trimester and term.
The non-pregnant level of red cell mass is 1400 mL
In women not treated with supplemental iron during pregnancy, the red cell mass
increases by about 240 mL, (compared with 400 mL in those taking supplemental iron).
Therefore haemoglobin, haematocrit and red cell count fall during pregnancy as the
expansion in plasma volume is greater than that of red cell mass. The relatively greater
increase in plasma volume than red cell mass results in decreased Hct, but a decreased
viscosity that allows decreased resistance to blood flow, and an increase in CO with less
increase in cardiac work
Changes in blood volume at parturition and puerperium
Blood loss at delivery
500 mL with singleton vaginal birth
1000 mL with twins and 1000 mL at caesarean section
Overall of the extra RBC mass is lost at delivery, the remainder lost as the
lifespan finishes
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Generally, 1000ml blood loss can be tolerated without a fall in Hb and almost all
occurs in the first hour. In the following 72 hours, av. 80 mls lost vaginally

Postpartum, there is a gradual decline in plasma volume, mainly due to diuresis.

However, in the first few days, there are wide fluctuations in plasma volume and
haematocrit due to blood loss and dehydration.
If haemoglobin or haematocrit at five days postpartum is markedly reduced, there has
been excessive blood loss
Non-pregnant blood volume is reached by about three weeks after delivery

Haemoglobin

Due to expansion of plasma volume, there is decreased:

av. =12.5 m/dL at term
abnormal (6%) < 11.0 g/dL
lowest in T2
After delivery, in the absence of excessive blood loss, the Hb stays the same, then
gradually rises to pre-pregnancy levels

Advantages of hypervolaemia
Protection against haemorrhage
Rise in red cell mass to keep up with the increase in demand for oxygen
Increased plasma volume to meet rising cardiac output to the skin and kidneys
Reduced risk of maternal hypotension in the last trimester, which can follow vasodilatation
and pooling in lower extremities
Increase in plasma volume reduces viscosity and decreases cardiac work

Iron Deficiency Anaemia In Pregnancy

Iron metabolism

Total requirement for iron in pregnancy = 1000mg

300mg actively transported to fetus- mostly at 36-40 wks
200mg excreted
500mg for increase in red cell mass
Almost all of this iron is used in the second half of pregnancy, and the iron requirement
becomes 6-7mg/day (overall 4mg/day throughout pregnancy).
A normal diet supplies 14mg iron- but only 1-2 mg (5-20%) is absorbed, therefore iron
stores must be mobilized.
Even with a normal diet and mobilization of stores, there is insufficient iron.
This occurs even though GIT absorption is increased
Hb production in the fetus does not suffer due to active transport across the placenta.
There is a reduction in serum iron before there is any detectable change in Hb level.
Many studies have shown that Fe supplements prevent anaemia , and that even in women
with a good diet the Hb can be raised

Red cell indices

MCV- The earliest and most sensitive indicator

MCH and MCHC - occur later
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Fe studies
TIBC:
Normally 1/3rd saturated, saturation falls in pregnancy and TIBC increases
NOT a reliable indicator of iron stores because of wide fluctuations and it is affected by
recent iron ingestion.
Serum iron < 12umol/l and TIBC satn< 15% indicate iron deficiency in pregnancy.
Ferritin
accurately reflects iron stores as it is not affected by recent iron intake
depleted iron stores- decreased ferritin only
severe iron deficiency but no anaemia yet- decreased ferritin and TIBC
anaemia due to iron deficiency- plus reduced Hb and red cell indices

WHO recommendation

Normal iron stores- 30-60mg/day

No iron stores- 120-240mg/day

Diagnosis of iron deficiency

A decrease in haemoglobin occurs relatively late in iron deficiency

The earliest manifestation is a reduction in mean corpuscular volume and later,
hypochromia
A lowering in mean corpuscular haemoglobin concentration occurs with significant iron
deficiency
In pregnancy, serum iron and transferrin saturation are reduced
Ferritin levels accurately reflect iron stores
levels below 15-300 Ng/L suggest iron deficiency
iron deficiency anaemia is diagnosed by decreased haemoglobin, mean corpuscular
volume, mean corpuscular haemoglobin concentration, ferritin and increased total iron
binding capacity
reticulocyte count
Decreased in marrow failure usually iron or folate deficiency, Increased in blood loss
or haemolysis

Investigations of suspected iron-deficiency anaemia

Should initially include:

FBC, Hct, red cell indices- MCV, MCH, MCHC, reticulocyte count
Blood film
serum Fe and ferritin-<15 = iron-deficiency, 30ug/L has 85% PPV and 90% NPV
red cell folate, B12
if African- sickle-cell studies
Hb EPG

The differential diagnosis of hypochromic microcytic anaemia includes

Thalassaemia
anaemia of chronic disease

Management of iron deficiency

Treatment is with 100-200 mg of elemental iron per day.

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Common oral regimens include 270 mg ferrous sulphate and 300 g of folic acid (this
contains 80 mg of elemental iron), or 350 mg of ferrous sulphate (which contains 105
mg of elemental iron).
In the presence of marked iron deficiency anaemia in late pregnancy, parenteral iron
may be required. Iron dextran given intramuscularly or intravenously must be used
cautiously as anaphylaxis can occur.
An increase in haemoglobin of 0.8g/L per week in pregnancy can be expected with
adequate iron therapy.
Side effects of oral iron
Constipation
abdo pain, bloating-due to amorphous precipitant in the stomach
Enhancers of absorption-Vitamin C, Organic acids, animal tissue, iron deficiency,
pregnancy, altitude, hypoxia
Inhibitors of absorption: calcium, sialic acid, tannins
If poor compliance/absorption,1000 mg IM will be enough for the pregnancy (the side
effect of constipation is rare with < 100mg/day oral iron)
There is no convincing evidence that the normal pregnant woman is at an advantage if
iron supplementation is taken in pregnancy.
At greater risk are those with low iron stores, twins, vegetarians.
Detect iron deficient women by measuring ferritin at booking is an indication for iron
supplementation. >80ug/l are unlikely to require supplements.

Anaemia due to Acute Blood Loss

For the moderately anaemic woman whose Hb is more than 7g/dL, who is stable without
further bleeding, who can ambulate without adverse symptoms, who is not febrile, iron
therapy for at least 3 months rather than blood transfusions is the best treatment.

Anaemia due to Chronic Disease

Most commonly CRF, Ca, HIV, and chronic inflammation - Inflammatory bowel disease,
SLE, RA,
Anaemia is due to increased cytokine production
Dx
Clinical state
Normo - slightly hypochromic anaemia
Fe decreased, Ferritin increased
Acute Pyelonephritis- can be a cause of overt anaemia, due to increased RBC destruction
decreased EPO
Rx- EPO - SFX= hypertension and placental abruption

Megaloblastic Anaemia

A family of blood and bone marrow abnormalities caused by impaired DNA synthesis (eg
Folate and Vitamin B12 deficiency)

Folic acid deficiency

Folic Acid

Essential for cell growth and development

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Folic acid is reduced to dihydrofolic (DHF) acid and then to THF acid, which acts as a coenzyme for cell growth and division
Folate requirements in pregnancy are increased due to demands from the fetus, placenta,
uterus and raised red cell mass.
Folate requirements; non-pregnant = 50-100ug/day, pregnancy = 400ug/day (but WHO
recommendations for daily intake of folate are 800 g/day in the antenatal period and 600
g/day during lactation)
folate is actively transported through the placenta to the fetus
Plasma folate- falls to half at term
earliest change, but a poor indicator of folate levels- daily fluctuations, no reflective of
stores
Red cell folate
a better indicator of body tissue levels, but slow to change due to slow RBC turnoverhence usually impractical
Low RBC folate at beginning of pregnancy more likely to develop megaloblastic
anaemia late in pregnancy.
Hypersegmentation of neutrophils on blood film is the earliest morphological change
Macrocytosis of RBCs.- May be masked by pre-existing iron deficiency, but careful
examination of the blood film usually shows some macrocytes
If severe folate deficiency
may also develop thrombocytopenia and leukopenia
Even with normal indices, megaloblastic anaemia should be suspected if there is an
inadequate response to iron therapy, and it may only become apparent after iron therapy
Folic acid deficiency may present antepartum or post-partum- lactation requires folate
5ug/100 ml of milk.
hemolytic anemia- thalassemia, haemoglobinopathies/ sickle cell

Investigations and diagnosis

The normal serum folate level falls from a non-pregnant level of 6.0 Ng/L to 3.4 Ng/L, at
term
Megaloblastic anaemia in pregnancy is almost always due to folate deficiency.
Blood film examination may reveal hypersegmentation of polymorphs, and macrocytes
The diagnosis is made definitively on morphological grounds from a bone marrow
aspiration to reveal megaloblasts

Management

Prophylaxis of 5 mg of oral folic acid daily to prevent NTD

In established deficiency states, 1-5mg per day is indicated.
Those requiring additional folate are:
Twins
haemolytic anaemia:
haemoglobinopathies, hereditary spherocytosis - 5-10
mg/day require
anticonvulsant drugs:
need additional folate pre-conceptually and throughout
pregnancy 5 mg/d), and Vit K before delivery to prevent neonatal bleeding due to inc
INR.
Crohns disease, inflammatory skin disease
Alcoholics
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Previous NTD- 5mg daily

Vitamin B12 deficiency

Pregnancy does not have a great impact on maternal vitamin B12 stores and a deficiency
state is rare except in strict Vegans.
The diagnosis is made on the observation of macrocytic anaemia, megaloblastic marrow
and decreased serum vitamin B12 levels.
Absorbed in ileum
Can occur in:
Addisonian pernicious anaemia: autoimmune disease with lack of intrinsic factor and
hence failure to absorb B12. Usually results in infertility, or occurs in women >40
Crohns disease- more common
Gastric, ileal resection, overgrowth of SI bacteria
tropical sprue

Haemoglobinopathies
Inherited defects of Hb
All haemoglobinopathies increase maternal m & m, abortion, PNM.
Important ones: -ALL AR
HbSS
HbSC
HbE-B thal
thal
thal
Types:
Sickle cell haemoglobinopathy- structural abn of globin
Other haemoglobinopathies- hemoglobin C, C-B-thalassemia, haemoglobin E
Thalassemias- impaired synthesis of globin
Polycythemia

Sickle Cell Anaemia

Structurally abnormal HB S (valine for glutamine on chain) HB C (glutamine for lysine)
Results in
sickle cell anemia SS
sickle cell-haemoglobin C disease SC
sickle cell-B thalassemia disease S-B thal
World distribution
HbS greatest frequency in West Africa:- 25% heterozygous
Also common in Mediterranean, Caribbean, South and Central American, Arab, and
East Indian populations
Autosomal recessive, prevalence higher in African Americans- 1/12 has SS trait (S
gene and A gene), 1/576 infants (1/12 x 1/12 x ).
RBCs with hemoglobin S undergo sickling when they are deoxygenated and the Hb
aggregates - this causes ischemia and infarction in organs= sickle crisis- this results in
severe pain and may cause aplastic and hemolytic crisis
This results in :
Bony abnormalities- osteonecrosis of femoral and humeral heads,
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renal medullary damage

autosplenectomy in homozygous and splenomegaly in heterozygous
hepatomegaly
ventricular hypertrophy
pulmonary infarcts
CVA
Propensity to sepsis
Early death- 48yrs in women
There is a chronic haemolytic anaemia- Hb 6-9g/dL

Sickle cell trait

8% of African Americans
No increase in abortion, IUGR, perinatal mortality
2 x UTI, aSxic bacteruria
BUT- chance of a serious sickle-cell haemoglobinopathy if the father carries a gene for
abnormal Hb or B thal.
-Screening newborns for sickle cell in the US decreases childhood mortality by monthly
penicillin injections and monitoring for stroke
Produces HBSA-30%-2/s
Complications in pregnancy
Haematuria
Bacteuria
Pyelonephritis

Sickle cell disease

Autosomal recessive, 2 copies of abnormal gene

HB S-2/s2
Red cell life span-17 days (N-120 days)
Chronic compensated anaemia-HB 6.5-9 g/l
sickle shaped cells on film
Functional hypersplenism
gallstones
High-risk pregnancy
risk of infection (pyelonephritis)
Parvovirus B19-can lead to aplastic crisis in pregnancy,
risk of TPL, IUGR, preeclampsia,
Sickle cell crisis
vaso-occlusive type-commonest
sequestration and aplastic rare in pregnancy
in pregnancy in 50% of women

Dx

HbEPG
sickling test on blood
partner HbEPG

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Prenatal Dx

via CVS or amnio for DNA PCR, in the future may allow stem-cell Tx in the fetus of normal
HbA, which is already done in children via bone marrow Tx.

Effect of Pregnancy on SS and SC

Sickle-cell crisis become more common

Infections and pulmonary complications more common
Maternal mortality- 1%
Increased abortion, S/B, NND with SS, less increase for SC

Overall Px

30% have severe disease, 60% moderate, 10% benign disease

The most worrying complication of transfusion is development of atypical red cell
antibodies, which may make it difficult to match donor blood.

Fetal

assess for IUGR- ACOG recommends weekly fetal assessment from 32 weeks- US for
growth and Dopplers

Antenatal Mx

Screen partner and Offer prenatal diagnosis if trait or disease

Multidisciplinary team
Folate supplements-4 mg/day, Iron supplements
ensure hydration
Hydroxyurea-teratogenic-discontinue
Desferoxamine-discontinue
Screening bloods
Baseline HB, iron levels, renal and liver function
Screen for HIV, Hep C, B
Screen for bacteuria
Monitor HB S levels
Prophylactic transfusions
lower crisis rate
no difference in obstetric outcomes
Fetal surveillance
serial growth
Recognition and prompt Rx of sickle cell crisis - obstetric emergency
Vaso-occusive crisis, mostly last trimester and postpartum
Precipitants: acidosis, cold, dehydration, infection, fatigue
Presentation: most common-back pain, also femur, hip joint, ribs, chest, abdomen
(even acute abdomen) and head
Treatment: analgesia (including EDB, PCA), rehydration, Oxygen, Blood transfusion
(+/- exchange transfusion) if clinical signs of anaemia
Acute chest syndrome-chest pain, fever, SOB, crackles, florid changes on X-ray
Haematuria, pyelonephritis

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Labour

Avoid IOL with prostaglandins-may induce crisis

anticipate spontaneous labour
Nitrous oxide with at least 50% oxygen for short term does not predispose to sickling
Analgesia (Epidural), hydration, oxygenation
Mx as for cardiac disease- Prevent overload,
Blood Tx if low Hct before instrumental delivery or CS
prevent dehydration, acidosis and hypoxia

Postpartum

Cord blood for electrophoresis

Hydration, oxygenation
Thromboprophylaxis - clexane advisable
Breastfeeding-not contraindicated
Contraception advisable-IUCD relatively contraindicated due to risk of infection

Contraception

Avoid oestrogen due to vascular effects, low dose progesterone may be safe and actually
prevents ss crisis- depot MPA. IUD prob conta-indicated due to infection. TL good.

Mx of sickling crisis in pregnancy

Prevention
monitor for bacteriuria
vaccines- pneumococcal, Hib, influenza
prophylactic RBC Tx to maintain hct>25% may decrease maternal morbidity from ss
crisis
Rule out obstetrical or medical cause of pain or anaemia before Dx of ss crisis can be
made
Hb should not fall below 7g/dL normally- if so, suspect infection, nutritional deficit. Rx
cause.
Folic acid requirements increased- 1mg/d due to increased erythropoiesis
Iron supplementation
IV hydration
Pain relief
Oxygen
Other complications
acute chest syndrome recurrent infarction may lead to vasculopathy and pulmonary
HT
cardiac dysfunction- high cardiac output due to ventricular hypertrophy is worsened by
pregnancy, esp if hypertension, infection develops

Haemoglobin C, Hb C-B thalassemia

relatively benign
as with all haemoglobinopathies, folic acid and Fe supplementation is essential
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Haemoglobin E

the second most common Hb variant worldwide- common in SE Asia

single B-chain substitution
Hb susceptible to oxidative stress
There is little or no anaemia
NO increased pregnancy risk

Haemoglobin E- B thal

may cause severe anaemia requiring Tx in pregnancy

Thalassaemia

impaired SYNTHESIS rather than structural abnormality

The haemoglobin molecule has 4 globin chains, each associated with haem
There are 3 normal haemoglobins in humans, each containing 2 pairs of globin
chains;HbA,HbA2,HbF
Adult levels are achieved by 6 months of age
chains are under control of 4 genes, chains by 2 genes- of each of the genes come
from each parent.
The basic defect in thalassemia is reduced rate of globin chain synthesis, the RBCs
having inadequate haemoglobin content
The incidence of these traits in all races is 1/300 to 1/500
Thalassemia is Dxd by DNA analysis in the fetus
Normal development
Embryonic HB-HB Gower 1&2, HB Portland, replaced by: Fetal haemoglobin (HbF) 2/2 dependant on genes
- Predominates after embryonic phase, has long life
- Dominant hemoglobin species during in utero life
- Higher oxygen affinity that adult hemoglobin for transport in hypoxemic fetal
environment
In the third trimester, the and -globin genes become active
Produces adult haemoglobins HbA-2/2 and HbA2-2/2
At term
HB A-30%, slowly replacing HB F by 6/12, so disorders of chains manifest in
utero or at birth, chains-after 6/12 of age
In the adult
HbA (2/2)-97%
HbA2 (2/2)-2% to 3%
HbF (2/2)-less than 2%
Increases in HbA2 and the persistence of HbF may be important in decreasing disease
severity in -globin disorders
Distribution in the world
The greatest frequencies-areas of past endemic falciparum malaria, including the
Mediterranean, southeast Asia, the Arabian Peninsula, Turkey, Iran, west and central
Africa, India, and Pacific Islands
Thalassaemia is characterised by an inherited defect in haemoglobin due to impaired
synthesis of a globin chain.
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The imbalance in synthesis of either the alpha or beta chain results in a shortened life span
of the red cell.

- Thalassemia

The globin chain gene (2 pairs) cluster is on ch 16

Unlike -thal, it is usually due to a gene deletion, severity proportional to no. of genes
deleted. No substitution for alpha chains
2 main groups of -thal traits in parents;
0-thal loss of both loci from one chromosome = --/
+ thal- loss of a single locus from one chromosome = -/ =silent(heterozygote), or
both = -/- (homozygote)
thal 0 may result in mild to moderate hypochromic microcyic anaemia
The pt with the single gene deletion only (-/) has no clinical abnormality and is a
SILENT carrier
2 main groups of phenotypes in offspring:
Homozygous -thal
Hb Barts
Hydrops Fetalis Barts
both parents transmit 0 and there are no functional chains- incompatible with life
and pregnancy usually ends in non-immune hydrops and if born alive will live only
hours
common cause of stillbirth in SEAsia
the tetramers formed are 4 (Barts) and 4 (HbH)
was first identified in a Chinese infant in St Bartholomews
US at 12-13 weeks was 100% sensitive for identifying affected fetuses by
measuring the cardiothoracic ratio
HbH disease
the deletion of 3 out of 4 genes with only one functional gene
the unstable Hb is mostly formed by tetramers of 4 (HbH) chains, and there are
some HbBarts 4 and HbA.
Compatible with life- the neonate is well at birth but develops haemolytic anaemia
after infancy
In the adult 7-16% of haemoglobin is H.
Varying degrees of anaemia, made worse by pregnancy
Normal life expectancy
Dx
Red cell indices
Decreased MCV
Decreased MCH
MCHC usually normal, cf Fe def
confirm Dx by
For Thal Trait
- globin chain synthesis studies, OR
- DNA analysis of RBCs
As there are no abnormal Hb formed with trait, Hb EPG cannot be used to Dx
HbH
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HbEPG can detect the 5-30% of HbH in the blood

Treatment
Iron and folate supplementation- for HbH- 5mg/day folate needed
Uncommonly blood Tx prior to delivery if very anaemic
Screen partner, Genetic counseling and Prenatal Dx if partner a carrier- esp important if
thal 0
For Hb Barts, TOP should be done due to the high risk of maternal morbidity or mortality
from
Severe pre-eclampsia
Obstet complications at delivery from a very large fetus and bulky placenta

-thalassaemia
Usually due to point mutations in the -globin gene- over 150 described and most are
single nucleotide substitutions
The gene cluster is on ch 11
Results in decreased -chain production and excess chains which precipitate to cause
cell membrane damage

-Thal minor
Increased HbA2 (22 ) is increased to more than 3.5%
Increased HbF (22 ) is increased more than 2 %
Anaemia is mild- Hb is typically 8-10g/dL late T2, with an INCREASE to 9-11g/dL near
term due to pregnancy-induced augmentation of erythropoeisis
Mx:
No specific therapy
Folic acid 1mg/day
Fe only if ferritin low - 60mg/day parenteral iron should NEVER be given
blood TX seldom indicated
Screen partner, counseling and PNDx if a carrier
Dx:
HbEPG- raised HbA2 with or without raised HbF
Prenatal Dx: The fetus can inherit:
B thal major
sickle-cell B thal
Dx by CVS- but may be difficult

-Thal major

Most common in Mediterranean- Cyprus/Greece, some in Asian- Indians

Autosomal recessive inheritance
The neonate is healthy at birth, but as HbF falls severe anaemia occurs
Diagnosis
HbEPG:
Increased HbA2
Requires blood Tx and iron chelation with desferoxamine
Females are usually sterile and life-expectancy shortened, but with iron chelation more
pregnancies are occurring- cardiomyopathy must be ruled out
1/7 carrier rate in Cyprus, 1/10 000 in UK
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Rx

Blood Tx and iron chelation with deferoxamine

IRON therapy is CONTRAINDICATED
Bone marrow Tx

Diagnosis and screening for Haemoglobinopathies

Maternal screening for haemoglobinopathy:
Aim to detect in mother and test partner to allow early prenatal Dx within 8-10 weeks if
both are carriers
Parents
thal minor- globin chain synthesis or DNA
thal major- Increased HbH on HbEPG
B-thal minor or major- Increased HbA2 on HbEPG
Prenatal Dx
FBS: Hb A can be detected in RBCs of fetus by 8-10 weeks
fetal loss 1-3%- has been superseded by DNA analysis
DNA analysis via
CVS- trophoblastic tissue
Amnio- amniotic fluid fibroblasts
Eg:
- for B-thal, B globin gene analysis is performed on amplified DNA to identify
single base changes
- CVS is method of choice for Dx of single-gene disorders
- The main haemoglobinopathy to detect is B-thal major- as this is associated
with greatest morbidity and cost repeated blood Tx and iron chelation.
HbBarts is fatal, and HbH is mild, but it is important to detect HbBarts due to the
risk of severe PE, and obstetric complications of a large baby and fetus for the
mother.
WORKUP (Summary)
Low MCV HB EPG, iron studies, if N HBEPG and N iron study- thal not excluded
Screen partner MCV and HBEPG
Thalassemia - Can not be diagnosed by HBEPG, only on genetic testing
Genetic counseling
Prenatal diagnosis by CVS or Amnio (for DNA) for couple at risk of having affected
baby
Preimplantation diagnosis-PGD-for next pregnancy (warrants IVF)

Acquired Haemolytic Anaemia

80-90% due to warm-active antibodies
Cold- agglutinins result from mycoplasma pneumonia or EBV
50% are due to underlying disease- CTD, lymphomas, leukemias, chronic-inflammatory,
drug-induced (cefotetan , methyldopa, erythromycin)
Dx:
Search for underlying disease, drug
Both direct and indirect Coombs test positive
Blood smear shows spherocytes and reticulocytes

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Mx:
Pregnancy may induce marked increased haemolysis
Rx with Prednisone 1mg/kg/day
Drug-induced haemolysis may be related to G6PD deficiency
SLE: Haemolytic anemia, thrombocytopenia, and leukopenia can occur in infants with
active SLE
Paroxysmal Nocturnal Haemoglobinuria:
haemopoietic stem-cell disorder resulting in formation of defective RBCs, platelets and
granulocytes.
acquired, it arises from one clone of abnormal cells
one mutated X-linked gene responsible is PIG-A- phosphatidylinositol glycal protein A,
resulting in abnormal anchor proteins of RBCs
results in insidious, chronic haemolytic anaemia, irregular haemoglobinuria (only in
25%, not always at night) and may be initiated by surgery, blood tx, infections.
40% suffer venous thrombosis, renal disease and hypertension also common.
Pregnancy may be dangerous- maternal mortality in 10%, 50% have post-partum
thrombosis (DVT, PE, Budd Chiari, cerebral veinous thrombosis)

Aplastic/hypoplastic anaemia

-1/3rd due to drugs, infection, leukemia, immunological disease, radiation

-Fanconi anaemia- inherited
-2/3rds- cause unknown- poor Px
1/3rd improve following termination of pregnancy
50% mortality in/after pregnancy due to infection or bleeding.
Mx: bone marrow or stem cell Tx. Antithymocyte globulin, prednisone, blood tx.

Hereditary Anaemias
Hereditary spherocytosis
due to a number of inherited RBC membrane protein deficiencies
Most are Aut Dom spectrin deficiencies
Varying degrees of jaundice and anaemia
Mx:
folic acid supplementation
Blood tx- infection intensifies haemolysis
splenectomy
Px
Pregnant women generally do well in pregnancy

G6PD Deficiency

the most common enzyme deficiency

X-linked homozygous in 2% of Africans, heterozygous in 10-15% of Africans
Variable phenotype due to lyonization
Confers some degree of protection against malaria
Haemolysis induced by infection or oxidant drugs
Mx: Iron and folate, treat infections, avoid drugs, blood Tx if Hct<20.
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