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PREVENTIVE OBSTETRICS
KNOWLEDGE ON SICKLE CELL DISORDERS AMONG THE ADOLESCENTS
Dr. Sujnanendra MishraBolangir
ODISHA
INTRODUCTION
Two major Hemoglobin Disorders; Sickle Cell Disease (SCD) and Thalassemia, have been declared as global health problem by WHO.
SCD is an autosomal recessive Hb disorder that affects individuals and societies physically, economically and psycho-socially,.
Key to prevention is understanding how SCD is inherited from parents in the same way as blood group or any other physical trait..
PATHOPHYSIOLOGY
Hb S is formed by the substitution of valine for
glutamic acid in the second nucleotide of the sixth codon
of the β-globin chain of Hb A.
This single-point mutation changes the codon
determining the amino acid from GAG coding for glutamic acid to GTG coding for valine.
Base Substitution mutation
Change in one base
May change an amino acid in the polypeptide chain
This may have no affect or a great effect:
A change in one amino acid may change the shape of a protein so that
it does not work properly.Sickle cell anemia: a change in the GAG codon
to GTG. Causes Valine to be added to the protein instead of Glutamic acid.
http://www.studentgroups.ucla.edu/citylab/images/SickleCell.jpg
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Inheritance Sickle cell disease is inherited in
an autosomal recessive fashion. • People with sickle cell disease
have two copies of the mutated gene.
• People with sickle cell trait have one normal gene and one mutated gene.
INCIDENCE OF SICKLE CELL DISORDERS
Studies are limited. Odisha falls in the High prevalence Zone in INDIA.(Incidence 21-40 %)**
• About 6 lac individuals are affected by sickle cell ailment in Odisha. • 13 districts mostly in western Odisha contribute 90% .• These Districts are Angul, Bargarh, Bolangir, Boudh, Deogarh, Dhenkanal,
Jharsuguda, Kalahandi, Nuapada, Phulbani,Sambalpur, Sonepur, & Sundergarh. In the neighboring Kalahandi district of Odisha*,
• 1668 newborns were screened for Genotype. 19.03 per cent were sickle heterozygous and 36 (2.16 %) babies with sickle cell anemia were identified.
Test Results of Antenatal cases tested for Sickle cell disorders in 5 Patho-labs situated at different places in the District were analysed.
*Panigrahi S. Patra PK, Khodiar PK. Neonatal screening of sickle cell anemia: a preliminary report. Indian J Pediatr2012; 79: 747-50.) **http://sickleodisha.org/ (NHM sponsored institute at VIMSAR )
INCIDENCE OF SICKLE CELL DISORDERS in PREGNANCY
PATHOLAB Total ANC Tested For Sickle Cell Disorders
Number of POSITIVE
INCIDENCE %
A 1174 140 11.92
B 712 69 9.69
C 1280 113 8.83
D 1043 97 9.30
E 1246 124 9.95
Total 5455 543 9.95
GENOTYPE (HPLC) AS SS
Screened Positive 543 461 82
% share Among Positives 84.90 15.10
Incidence % Among
5455 ANC(9.95)8.45 1.50
KNOWLEDGE ON SICKLE CELL DISORDERS AMONG THE ADOLESCENTS
THE STUDY
HYPOTHESIS Adolescents have low levels of knowledge about
SCD and SCT and health implications thereof. Genetic transmission of SCD and SCT. The importance of Genetic counseling in prevention of SCD.
A significant number of participants will be uncertain about their genotype.
Aim and Objectives To determine the current knowledge and health beliefs of the
Adolescent students regarding • SCD and • Its inheritance.• Their GENOTYPE STATUS• Genetic Counseling
To determine their behavior towards someone with sickle cell disorder on Reproductive Health Perspective.
Rationale of the study
Maternal Mortality and Morbidity with SCD Research findings: when
compared to healthy pregnant women, pregnant women with a severe form of sickle cell disease (SCD) are six times more likely to die during or following pregnancy and have an increased risk for stillbirth, high blood pressure, and preterm delivery.
*Maternal Mortality Rate (UK) among women without sickle cell disease is 5 per 1000 Births Maternal Mortality Rate (UK) among women without sickle cell disease 0.06 per 1000 Births.
*http://www.sickle-thal.nwlh.nhs.uk/forhealthcareprofessionals/MidwivesFocusSickleCell.aspx
Risk of Maternal Death Associated with SCD (2010-2014)
2010 2011 2012 2013 2014
Total Maternal Death 83 67 78 63 55
Death due to SCD 9 8 7 9 7
PERCENTAGE 10.84 11.94 8.97 14.28 12.73
In spite of significant decline in MMR over the years,unfortunately there was no such reduction in death of SCD mothers
Methods Participants: 1097 students aged between 16 to 21 years. From 5 colleges out of
29 degree colleges, selected by simple balloting. Measures
• Demographic Variables.• Sickle Cell Trait Knowledge and belief.• Behavior to someone with sickle cell diseases over RH.
Procedure • Self-administered Questionnaire used.• Consent obtained (opt-in). • Terminologies were explained to respondents before the test.
Data Inspection and Analyses • The data obtained was entered in to XLs data sheet.• Answer of Participants (296) not aware of Sickle Cell Disorder were excluded from further Analysis.
Statistical Analyses: Simple percentage analysis of the Data was done.
FINDINGS
Socio demographic characteristics of respondents
The respondent's age ranged between 16- 21 years, 331 (30.2%) were 21 years of age.
Females 599 (54.6%) and males 498 (45.4%).
The majority were Hindus 995 (90.7%), 81(7.38%) Christians, 21 (1.91%) were Muslim.
58.52% were from science stream.
73.02% Aware of SCD. 97.5% know someone with SCD. 44.82% have friends with SCD. 45.94% don't know that it is
inherited. 40.57 not aware of signs and
symptoms. 28.81% don't know that SCD is
diagnosed from blood test.
Table 2: Distribution of knowledge & belief
on sickle cell disease
Table 2: Distribution of knowledge & belief
on sickle cell disease 75.16% know that Blood Transfusion is the
treatment, ONLY 35.33% know the importance of other
measures. 3.25% know that none of the children be
SCD when one of the parents has SC Trait and
2.37% belief that chances of ¼th. Children being SCD when both parents have SC Trait.
1.62 % know Genetic Counselling as a preventing measure.
Behavior to someone with known sickle cell disorder
(Reproductive Health Perspective) 51.32% think one should know his genotype. Only 7.89% know their Genotype. As many as 12.5% have SS and 64.58% have
AS among the known genotype. 67.6% belief, partner genotype will not
influence decision to marry him or her. 47.7% don't know what to do if there is risk
to their children having SCD. Only 11.68% would prefer seeking genetic
counselling.
IMPORTANCE OF PREMARITAL & PRECONCEPTIONAL GENETIC COUNSELING IS KNOWN ONLY TO FEW (11.68 %) PARTICIPANTS.
DISCUSSION
Treatment without prevention is simply unsustainable.Bill Gates
Preventive Reproductive Health
Socialdeterminants
of health
Standards of Health Care
Genetics factor
POSSIBLE though
Risk Reduction
Reproductive health Better Maternal
&Child health
Reduction of
Morbidity&
Mortality
GenotypeTesting &
Counseling
Informed
ReproductiveChoice
Opportunity at all STAGESLife Cycle Approach
IDEAL APPROACH
The fetal Genetic identity is the culmination of a sequence of events and interacting factors during • Premarital period.• Preconception and • Pregnancy Period.
Major Genetic Disorders can be prevented by ELIMINATION of RISK.
Key to Prevention is Universal Genotyping and stage appropriate Counseling.
LIFE CYCLE APPROACH Decreasing high-risk marriages,
• would reduce number of sickle cell pregnant women.
• would reduce number of maternal deaths. To improve this outcome, we need
intensified counseling for • High-risk adolescents and • High-risk couples,
Strengthening of the health education program
Timing the screening for yielding HIGH Impact outcome• Premarital (i.e. by the end of college
education).• Pre-conception,
AVERTING AVOIDABLE MATERNAL DEATHS through
PREMARITAL COUNSELING
If heterozygous marriage can be prevented or reduced, the risk of giving birth to affected child also be minimized :• Sickle cell anaemia, • Thalassemia.
Nos. of Sickle cell Disease can be REDUCED. This in turn will reduce No. of Pregnancy with SCD. Sickle Cell Disease related Maternal Deaths can be AVOIDED.
ConclusionINHERITANCE
Sickle cell disease is common, incurable, autosomal recessive inheritable Hemoglobinopathy that causes significant morbidity and mortality and imposes a heavy burden on society.
A simple blood test before marriage can • Detect carriers of these diseases, • Enable couples knowing about their chances of producing
affected children and • Ensure receiving timely appropriate advice.
Premarital screening programmes have become widely accepted and highly valued in preventive healthcare, so much so that many countries have made them mandatory.
Prenatal genotyping and Counselling for High Risk Couple should be encouraged with in the purview of PC&PNDT act.
In conclusion,
PREMARITAL SCREENING AND PROSPECTIVE GENETIC
COUNSELING OF ADOLESCENTS FOR PREVENTION OF
HETEROZYGOUS MARRIAGE FOR SICKLE CELL DISEASE CAN ONLY AVERT SCD RELATED MATERNAL
AND U5 MORBIDITY AND MORTALITY
THANK YOU
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