Thalassemia slideshow for awareness among non medical personnels.

1. Thalassemia
Awareness
DR. AHMAD ALI KHAN
BLOOD BANK
CPEIC, MULTAN

2. What is it ?
 A genetic disease which means it can be transferred from parents down to their
children.
 Autosomal recessive(meaning their offsprings have 25% of acquiring that disease,
50% chance of being carrier and 25% chance to be normal)
 In this disease, the structure of haemoglobin is distorted. Haemoglobin is the
molecule which transfers oxygen from our lungs to the rest of our body.
 Haemoglobin has 4 chains attached to iron. 2 of them are called alpha chains, two
of them are called beta chains. Depending on the chain involved in thalassemia,
the disease is called either alpha thalassemia or beta thalassemia.

4. CAUSES OF THALASSEMIA
 MAJOR CULPRIT: CONSANGUINITY. Especially in Pakistan, where cousin
marriages are very common and generation after generation, cousins are being
married. Which results in accumulation of bad genes in the body.
 Sometimes, spontaneous genetic mutation can also cause thalassemia, but these
comprises of a very minute amount of cases.

5. SYMPTOMS
 BETA/ ALPHA THALASSEMIA MAJOR: This represents very severe
cases. In a baby, there is another form of haemoglobin formed during fetal
life, which protects the baby initially. But later within 5 or 6 months when
that fetal haemoglobin starts to fade away, the baby starts to show the
symptoms of thalassemia, which are:
i. Palor (the baby looks pale)
ii. Irritability
iii. Anorexia (baby eats less)

6.  When the patient is 6 to 10 years old:
I. Spleen gets enlarged
II. Liver gets enlarged
III. Crowding of teeth
IV. Shortness of Breath
V. Easy Fatigability
VI. Weakness

8.  Alpha/Beta Thalassemia Minor:
I. Symptoms are mild since hemoglobin is being produced somewhat, and there is
only minor anemia
II. Child may only present with irritability and anorexia.
III. Since symptoms are not specific, children are not diagnosed with thalassemia,
until they are in adult life they are tested for anemia.

9. DIAGNOSIS
 ELECTROPHORESIS: The only test which can detect thalassemia or any other
hemoglobinopathy.

10. TREATMENT
 BONE MARROW TRANSPLANT:
I. 100% curable chance
II. Works only if child is diagnosed as early as in their first 3 years of life
III. Bone marrow transplant has its own complications
 BLOOD TRANSFUSION:
i. Only solution for a patient with thalassemia major
ii. Due to continuous blood transfusion throughout their lives, patients need to be
transfused with chelators to get extra iron out of their bodies.
iii. Avoid iron rich foods such as meat or green vegetables.

11. COMPLICATIONS
 Due to frequent blood transfusions, patients are at risk for diseases that are
transmitted through blood, such as, hepatitis B, hepatitis C, HIV, Syphilis, Malaria.
 Splenomegaly
 Hepatomegaly
 Due to iron overload in the body, it can deposited in many of our organs leading
to malfunctioning of those organs such as:
i. Heart (Dilated Cardiomyopathy)
ii. Immunosuppresion
iii. Liver cirrhosis

12. PREVENTION
 Screening of bride and groom who have positive family history of thalassemia.
One of the single most important measure which can be used to stop the spread
of thalassemia.
 Genetic testing of siblings of thalassemia patient
 Genetic testing of Fetus through chorionic Villous Sampling. CVS carries risk of
spontaneous abortion!
 Genetic Counseling

13. PREVENTION AND AWARENESS IN
PAKISTAN
 The expected carrier rate is 5% to 7%
 Punjab Government has launched a proper branch in Specialized Health care to
eradicate this disease.
 Website: https://ptpp.punjab.gov.pk

14. Thank You
Have a Nice Day