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