This document discusses thalassemia, a blood disorder caused by mutations in hemoglobin genes. It provides information on the types of hemoglobin normally present at different stages of life, the genes responsible for alpha and beta chains, common mutations that cause thalassemia in India, and the decrease in globin protein synthesis that results in thalassemia. It also summarizes strategies for screening, diagnosis, and prevention of thalassemia births through counseling, prenatal testing, and preimplantation genetic diagnosis.
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8. 2ᶑ& 2 βchain
97% Adult haemoglobin
After birth Hb F is replaced by Hb A By six months of age
HbF: 2ᶑ& 2 ϒchain
At birth HbFis 70-90%, That fall to 25% by one month & <2% by one year of age
HbA2 : 2ᶑ& 2δchain
1.5 to <3.5% in normal adult
Types of Haemoglobin
9. The Gene of Alpha chain is
located on Chromosome 16.
Molecular aspect of Thalassaemia
The Gene of Beta chain is
located on Chromosome 11.
10. SEQUENCE OF BASES - “GENE”
Molecular aspect of Thalassaemia
T C G A T G
A G C T A C
Substitution, Deletion , Insertion of base pair of a gene results in another sequence of GENE called “ GENE MUTATION”.
11. Mutation causes either decrease or absent synthesis of globin protein .
•Decrease synthesis of Beta globin chain –
•Beta Thalassaemia
•Decrease synthesis of
•Alpha globin chain -
•Alpha Thalassaemia
24. Preventing the Birth of a “Thalassaemia” child is the only answer to this world wide problem
25. How does the birth of a thalassemia child occur ?
26. When both partners are carrier ,there is 25% chance of child to be affectectdwith Thalessaemiain each pregnancy
CARRIER
50 % CARRIER
25% NORMAL
25% T .MAJOR
CARRIER
27. But when only one partner is carrier then no child will be affected with Thaessemia
CARRIER
50 % CARRIER
NORMAL
50% NORMAL
35. GeneticCounseling
If marriage is unavoidable due to cultural
& social reasons or diagnosed as carriers after
marriage or after conception
36. P
Then what is the option ?
PRENATAL DIAGNOSIS
37. G1P0A0
Dx
Haemogram
MCV 53.2
MCH 15.8
TRBC5.6
MCV/TRBC = 9.
Couple came for consultation at 18 weeks
38. G1P0A0
MCV 60.6
MCH 18.8
TRBC6.12
MCV/TRBC = 9.9
MCV 53.2
MCH 15.8
TRBC5.6
MCV/TRBC = 9.
Couple came for consultation at 18 weeks
39. G1P0A0
Thalassemia carrier
HbA2 4.6
HbA2 5.5
Couple came for consultation at 18 weeks
Thalassemia carrier
40. G1P0A0
Thalassemia carrier
Couple came for consultation at 18 weeks
Thalassemia carrier
Amniocentesis
Couple’s blood in EDTA along with amniotic fluid was
sent for Gene mutation analysis
42. Paternal mutant gene
Absent
Fetus is normal or
carrier
Continue the pregnancy
Paternal mutant gene
present
Fetus has 50%
chance being
Thalassaemia Major
Massively parallel DNA
Sequencing done
Maternal blood is collected for Isolation of Fetal DNA
fetal DNA is then tested for Paternal mutant gene
NONINVASIVE
43. PRENATAL DIAGNOSIS
INVASIVE PROCEDURE
under USG Guidance by 18 gauge needle
Trans abdominal Trans vaginal
-
Chorionic villous sampling (CVS)
11-14 weeks; Preferably at 11 weeks( 73 Days)
44. PRENATAL DIAGNOSIS
Trans abdominal -Ultrasound guided after 16 weeks
22 g needle
Initial -2-3 ml is discarded
Usually 20cc amniotic fluid
Results –2 to 3 weeks
AMNIOCENTESIS
INVASIVE PROCEDURE
45. Gene mutation in DNA obtained from FETUS is matched with family gene mutation
If fetus is normal
or carrier for thalassaemia
If fetus is thalassaemia Major
After genetic counseling couple should be given option for termination of pregnancy
Continue pregnancy
Gene mutation study Should be done among all carrier for Future family planning after birth
49. Benefits of Pre-implantation Genetic diagnosis
Forcoupleswhohavealreadyanaffectedchild,PGDallowsHLAmatchingforpre- selectionofpotentialdonorprogenyfortheaffectedsiblingwhorequirebonemarrowtransplantation.
Psychologicalstressofterminationofpregnancycanbeavoided
50.
51. World wide 240 million people are
carriers of β-thalassemia i.e.
1.5% of total world population.
Approximately 15 million people are estimated to suffer from
“Thalassemia Major”.
Every year One lac children are
born with thalassemia major
52. On an average 1 person in every 25 Indians is a thalassemia carrier i.e. approximately 30 million people are thalassaemia carrier .
Every hour “One” Thalassaemia major child is born i.e. every year approximately10,000 new Thalassaemia patients are born in India.
53. beta-thalassemia trait in India
Panjab 6.5%
Delhi 2.2 -9.2%
LarkanSindhi 17%
DaduSindhi 8%
Bhanishali15%
Lohana13.6%
Kerala 0.6%
Assam 5 %
Gujarat 10-15%
56. Lack of
Education
Lack of
experts
Social factors
Lack of
National
policy
lack of
Fetal medicine
Centre
Lack Genetic entre
lack of
Funds
lack of
Screening
57. Lack of Education
Illiteracy is a big challenge for prevention of ThalassaemiaIn India
58. Lack of Education
lack of Pre marital screening
Detection of Carrier state
seems to be is a “stigma” to
their life and may
Affect their marriages
hence deprived of it.
Lack of Pre-conception counseling–
Even When family is having
affected Child, Couple have
unplanned pregnancy due
lack of knowledge & fund for
Screening methods.
59. Lack of Education
They do not have early
antenatal Booking
Hence deprived of
prenatal screening
And
prenatal diagnostic
care for
Thalassaemia
61. Challenges of Social factors
Consanguineous Marriage
Marriage among Close blood relative is a big hurdle for prevention of Thalassaemia.
Feticide is “SIN”Hence they avoid termination of even when fetus is affected.
64. Challenges of Economic burden
Fund for
Education, Training and awareness programmes
Fetal medicine Centre 50 -70 lacs
Lab -Cell counter 08-10 lacs
-HPLC 70-80 lacs
Genetic lab 25-75 lacs
72. Mass screening :
Means screening of each individuals for thalassemia in reproductive age group (15 to 45 years)
73.
74.
75.
76. P
Report should be high lighted with logo of ‘Thalassemia free India”.
Should calculate the Mentzer index and include it in haemogramreport
Should highlight the MCV, MCH, TRBC indices in haemogramreport
79. Government should formulate a policy for implementation of universal Thalassaemia screening programme“FREE OF COST” for infants, school and college going children, And those attending preconceptional and antenatal clinics. “Registration of marriage by the court should be done only when Blood report of Thalassemia screening is produced”
80. Like “Janani surksha yojana” the government should formulate the policy Of “ SWASTH SHISHU YOJANA” to prevent the birth of child with “THALASSEMIA” by providing prenatal diagnostic facility “FREE OF COST” at each and every corner of our country.
Psychological and financial support should be given to the pregnant women for safe termination of pregnancy if the fetus is affected with Thalassemia major.
85. I AM A SMALL AND PRETTY CREATURE
WILL SOON COME TO THIS WORLD IN FUTURE.
BUT WOULD LIKE TO SEE SMILING DAD AND MOM
WHEN I COME OUT OF THE WOMB
THIS IS POSSIBLE ONLY WHEN
I BORN HEALTHY ONLY THEN
SO I APPEAL TO MY DOCTOR FRIENDS
DO INVESTIGATE ON ME BEOFRE JOURNEY ENDS
START WITH GENETIC COUNSELLING WITH MOM
BEFORE I ARRIVE IN THE WOMB
DO MOM’S HAEMOGRAM BLOOD TEST
TAKE MCV &MCH CRITERIA IN SET
IF MCV LESS THAN 75 & MCH LESS THAN 25 INDICE
THEN GO FOR ESTIMATION OF HbA2 IN PRECISE
IF VALUE COMES TO BE MORE THAN 3.5 PERCENT
LABLE MY MOM AS THALASSAEMIA CARRIER INSTANT
ADVISE FOR MY DAD’S CARRIER SCREEN TEST
IF COMES POSITIVE , GO FOR MY PRENATAL TEST
DO CVS AT 12 WEEKS OF MY GESTATIONAL LIFE
TAKE OUT VILLOUS TISSUE BY SMALL NEEDLE PIPE
SENT CVS TO GENETIC LAB FOR GENE MUTATION ANALYSIS
ALONG WITH REPORT OF MY PARENT’S BLOOD ANALYSIS
IF I STOOD THALASSAEMIA CARRIER OR NORMAL
CONTINUE MY JOURNEY IN THE WOMB AS USUAL
IF MY REPORT SHOW MUTATION FOR THALASSAEMIA DISORDER
TAKE ME OUT OF WOMB TO PREVENT THIS GENETIC DISOREDR
THIS WILL BE VERY PAINFUL TO MY MOM & DAD
FOR ME ALSO, NOT TO GET ENTERY IN THIS WORLD
HENCE I APPEAL TO YOU ALL MY DEAR
GO FOR PREMARITAL SCREENING WITHOUT FEAR
SO THAT MY LIFE NEVER COMES IN DANGER ZONE
AND I COMLPETE MY JOURNEY HAPPILY IN THE WOMB
I WOULD LIKE TO SEE ALL PARENTS WITH HAPPY & SMILLING FACE
AND MY NATION WILL SHINE AS THALASSAEMIA FREE IN WORLD RACE
.