IDA VS THALASSEMIA

http://www.myhealth.gov.my/en/talassemia/

Introduction WIPE
Introduce, build rapport

ICE Do you know why we meet today?

Today we will discuss about the result of the blood test you’ve
taken before.
May I know what happen to you before? – why we did this test?
How are you feeling after the blood test until now? any changes,
or any problem at all?

Explaining the result Confirm name, IC

I have the result with me now
MCHC anemia - indication of Hb electrophoresis/ FBC: to screen for thalassemia
- IDA
- Thalassemia Brief history
Rule in/ rule out other causes of anemia
- chronic blood loss – menorrhagia
- family h/o haematological disorder
- dietary
- drug induced – aspirin (peptic ulcer)
- chronic illness – SLE, connective tissue, CKD

FBC
-Thalassemia: Mentzer index < 13, MCHC anemia. the result
shows that it is possible that you are having thalassemia. (You are
carrying the gene for thalassemia)
- IDA: Mentzer index > 13, MCHC anemia. possible of having
IDA but still need to rule out thalassemia/ other blood loss

Hb electrophoresis -
if Hb electrophoresis show thalassemia

ICE
- any idea about thalassemia? IDA?
- anything that you are worried about? – concern

Explaining about Thalassemia is a genetic problem where the body produce

thalassemia abnormal red blood cells.
In thalassemia, the body produced red blood cells which comes in
many sizes and they are fragile and easily break. They cannot stay
long in the body.
This will result in very few normal red blood cells left
functioning in the body.
The red blood cells are very important to carry oxygen from the
lungs to deliver to all the organs and body tissues.
 When a person has too few normal red blood cells, it is called
‘anaemia’ and this condition can lead to symptoms such as pallor,
tiredness, lethargy, irritability

if its severe can cause bony deformity (which is enlargement of

the bone in cheek, jaw, forehead), heart failure, enlargement of
the liver and spleen, osteoporosis, hormonal imbalance resulting
in diabetes mellitus and also can cause growth failure in children.

“Do you have any symptoms at all like what I’ve mentioned?

“OK, up to this point, do you have any question to ask? Can I

proceed?”

Thalassemia Thalassemia is an inherited genetic disease that is passed from

inheritance parent to child through the genes. Both male and female children
have equal chances of getting the disease.
It is not transmitted through blood, air or water, or through
physical or sexual contact with a patient, nor can it be caused by
poor nutrition or medical conditions.
Each person has two of every kind of gene, one passed on from
the mother, the other from the father. Among other genes, these
two genes that control how haemoglobin is formed is found in
each red cell. Now consider three sorts of married couples:

• Both parents are normal : They cannot possibly pass on

thalassemia trait or thalassemia major to their children.

• One parent has a thalassemia and one is normal For each

child there is a one in two (50%) chance of inheriting
the thalassemia gene from the carrier parent: if this
happens the child will have thalassemia trait. There is
also a one in two (50%) chance of inheriting the normal
gene from the carrier parent: if this happens the child
will be completely normal. None of this couple’s
children can have thalassemia major.
 • Both parents are thalassemia carriers : i.e they are a
“couple at risk” The couple who are both carriers have a
one in four (25%) chance in each pregnancy of having a
child with thalassemia major; a one in two (50%)
chance of having a child with thalassemia trait; and one
in four (25%) chance that the child will inherit a normal
gene from both parents and so will be completely
normal.

Thalassemia Major-thalassemia patients.

The red blood cells of a person with thalassaemia major can only
survive for a few weeks, compared to normal red blood cells that
survive for around four months. Lack of haemoglobin results in
reduced oxygen to every cell in the body.
May require blood transfusion every month for the whole life

Thalassemia Minor-carrier, asymptomatic and healthy.

- may passed it to children

Thalassemia trait
- you don’t have the disease; you are the carrier and can pass the
disease to your offspring

Thalassemia and Possibility of your children could have thalassemia

pregnancy - it can happen if your children get the thalassemia genes from
you and your husband
- husband/ future partner must be screened for thalassemia
Management Thalassemia trait & If already pregnant
screen husband & screen fetus
“So today, we will do a blood test (FBC) for your husband and we
will see from there.”

a) Chorionic Villus Sampling (CVS)

- CVS can be performed at about 10-12 weeks of pregnancy.
- In this test, the doctor removes a small sample of the chorionic
villi, or cells that will form the placenta.
- The cells are removed either with a thin needle inserted in the
mother’s abdomen or with a thin catheter inserted in the vagina.
- These cells, which contain the same genetic information as the
fetus, are analysed for the thalassemia mutations
- Risk of miscarriage 0.5-1%.
- Other risks include infection and bleeding.

b) Amniocentesis
- Performed in the 2nd trimester of pregnancy, about 15-18 weeks
of gestation.
- Using ultrasound as a guide, the doctor withdraws 2-3
tablespoons of amniotic fluid from the mother’s womb through a
very thin needle inserted in the mother’s abdomen.
- Fetal cells that are floating free in the amniotic fluid are then
analysed for the thalassemia mutations.
- Risks: miscarriage (0.5%), infection and leaking of amniotic
fluid
Psychosocial “How is your pregnancy now?
Are you coping well with your pregnancy?
Any problem at all?
Any vomiting, vaginal bleeding or abdominal pain?”
“Are you working? What are you working as? How is it at work?”
“With whom are you staying at home? Is there anybody available
for you if you need help?

Advice “Take a good care of yourself and your pregnancy. Take balanced
diet and drink milk. Take folic acid as prescribed.”

“Don’t stress too much about the blood test result. Thalassemia
trait is NOT THE DISEASE. It is not an illness and will never
turn into an illness.” “Thalassemia trait doesn’t usually cause any
of the symptoms of thalassemia major, or if any only mild
anaemia which does not need blood transfusion.” “Being a
thalassemia trait carrier will not impair your work, exercise, diet
or fertility.

“Thalassemia trait carriers should not take iron supplements

unless a special blood test (serum iron or serum ferritin) shows
that you are iron deficient.”

Safety netting TCA stat if symptomatic of severe anemia