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Thalassemia
1. Awareness and Prevention
Strategies for Thalassemia
• DR. NILESH WASEKAR
• CONSULTANT HEMATOLOGIST & BMT
PHYSICIAN
• NASHIK HEMATOLOGY SERVICES AND
CENTRE FOR BLOOD CANCER NASHIK
2. International Thalassaemia Day 2022 Theme
Be Aware.
Share.
Care:
Working with the global community as one to improve thalassemia knowledge
3. What is thalassemia?
Thalassemia is a group of inherited disorders
of hemoglobin synthesis characterized by a
reduced or absent output of one or more of
the globin chains of adult hemoglobin .
The name is derived from the Greek words
Thalasso = Sea" and "Hemia = Blood" in
reference to anemia of the sea.
4. Genetics of
ß
thalassemia
• बीटा-ग्लोबबन जनुकात बदल झाल्यास बीटा-
थॅलॅसेमिया आजार होतो.
• थोडक्यात थॅलॅसेमिया आजार ग्लोबबन जनुकाांच्या
उत्पररवततनािुळे झालेला आनुवांमिक आजार आहे.
8. Types of ß thalassemia
• Thalassemia Minor (Trait).
This can also be called (carrier state), meaning that the
person carries the genetic trait for thalassemia.
Such people usually practice normal life, but may suffer
from a mild form of anemia.
9. Types of ß thalassemia-
Cont
Thalassemia Intermedia.
Caused by the reduced availability of beta chains in hemoglobin
and can lead to moderate to severe anemia and an array of
complications including bone deformities and splenomegaly.
वारांवार रक्त घेण्याची गरज
पडते की नाही, या िहत्त्वाच्या
ननकषावरच एखादी व्यक्ती
बीटा-थॅलॅसेमियाग्रस्त आहे की
बीटा-थॅलॅसेमियाचा सौम्य प्रकार
(इांटरमिडडया) आहे हे ठरते.
10. Types of ß thalassemia- Cont
Thalassemia Major (Cooley's Anemia).
Caused by the unavailability of beta
chains in hemoglobin leading to a very
severe and fatal if left untreated
anemia.
It requires regular blood transfusions
leading to iron-overload which is
treated with chelation therapy to
prevent death from organ failure.
11. Laboratory
diagnosis
Thalassemia minor:
-Blood smear shows hypochromia
and microcytosis (similar to Iron
Deficiency Anemia).
-Blood indices: MCV< 75 fl, Hb
usually> 10, Hematocrit> 30%, RDW <
14%.
-Hemoglobin A2 often elevated > 3%,
sometimes reaching 7-8%.
12. Laboratory
diagnosis-
Cont
• Thalassemia major:
-Blood smear shows profound
microcytic anemia, with extreme
hypochromia, tear drop, target cells
and nucleated RBCs.
-Hemoglobin may be very low at 3-
4 g/dl
-HbF 30-90%
14. भारतात दरवषी थॅलॅसेमिया आजार
असलेली दहा हजार बालक
े जन्ितात.
जगाच्या थॅलॅसेमिया ववकार असलेल्या
व्यक्तीांच्या हा आकडा दहा टक्क
े आहे.
जगातील दर आठ बालकाांिागे
भारतातील एक बालक थॅलॅसेमिया
वाहक आहे.
16. Cost of treatment of Thalassemia
MEDICAL MANAGEMENT
50-150 k per year
BMT
12-15L MRD 18L Haplo 25L MUD
Moirangthem A, Phadke SR. Socio-demographic profile and economic burden of
treatment of transfusion dependent thalassemia. Indian J Pediatr 2018;85:102-7
21. Population
education and
awareness
• Educating community regarding
• The inherited nature of the disease
• Possibility of detection of carrier state
• The chances of having a child with
Thalassemia
• Management and complications of
Thalassemia
• How to prevent the birth of child with
Thalassemia
22. Mass
Screening
• Who should be screened?
• All individuals before marriage
• High-risk communities
• Screen them after marriage, but before the
woman conceives.
• Finally, if screening has not been done before
conception too, one should at least screen the
pregnant woman for thalassemia trait in first
trimester.
• If she is trait, screen the spouse and counsel for
prenatal diagnosis, if both are traits.
• All members belonging to extended family of an
individual with Thalassemia major and/or trait
23. Which tests should be used for screening?
There are various screening tests including:
•Red blood cell indices
•NESTROFT
Low MCV, MCH coupled with a normal RDW and a high RBC count with a Mentzer index of < 13
(RBC/MCV) are a good indicator of thalassemia trait or carrier state. However, confirmation by Hb Epp
or HPLC is mandatory.
Currently, NESTROFT is not recommended as routine screening test, except in special circumstances,
where a CBC may not be available.
24. Confirmatory
tests
• HPLC for abnormal hemoglobin
• Molecular tests
• The diagnosis of thalassemia trait or carrier state is based on
high HbA2 levels
• Molecular tests: Molecular tests used for DNA analysis of
hemoglobinopathies currently are based on PCR methods to
detect globin gene mutations.
25. Genetic
counselling
• Genetic counselling is an extremely important
step in preventing the birth of a child with
Thalassemia
• The couples who are both Thalassemia carriers
need to be counselled that there is a 25%
chance in each pregnancy of having a child
with Thalassemia
• They should be counselled regarding prenatal
diagnosis and informed about options of
terminating the affected fetus
26. Prenatal Diagnosis
• Prenatal diagnosis should be offered to all couples
where both partners are Thalassemia carriers.
• A. Chorionic villous sampling –This is done
between 10th and 14th week of pregnancy.
27. • B. Amniocentesis – This is performed between
15th and 20th week of pregnancy
28. • C. Cordocentesis – In case, the
pregnant woman reports
beyond 18 weeks, the fetal
blood sampling can be
done by cordocentesis
30. • Non-invasive prenatal diagnosis
(NIPD): NIPD is a relatively
newer technology
• under research!
31. Is Prevention Feasible in Our Country?
• Yes, it is feasible, provided,
• we have the political will,
• the dedication and
• determination to allay the suffering of those born with thalassemia and their families as well as to reduce
the financial burden on the nation
• If Cyprus, Sardinia, Italy, Greece and various other countries can achieve, India too can achieve it
• A concerted effort through an organized National Program for prevention can achieve the goal of zero
thalassemia births in our country too!
The cut-off for HPLC is taken as HbA2 ≥4%, whereas HbA2 of 3.5 – 4% is considered borderline
Genetic mutations or the molecular defect in the couple should be identified well before pregnancy or as soon as they report during antenatal period for testing. This helps us to confirm presence or absence of mutations in the fetus.
Once the sample is collected, it is sent to a molecular lab and the result is obtained in 7 days, if genetic mutations in the parents are already identified and, in 14 days, if the genetic mutations are not identified
PGD is a recent advance in prenatal diagnosis for various genetic disorders. It involves in vitro fertilization using assisted reproductive technology. The cell from the embryo thus produced is tested for Beta- Thalassemia Homozygous state using molecular methods. Those embryos which test negative for Thalassemia homozygous are then implanted.
