National Thalassaemia Screening Program , Malaysia

NATIONAL THALASSAEMIA SCREENING PROGRAM
CONTENT
PAGE
1. INTRODUCTION ………………………………………………………………… 1
2. THALASSAEMIA SITUATION IN MALAYSIA ......................................... 3
3. NATIONAL THALASSEMIA SCREENING
3.1 OBJECTIVES …………………………………………………………… 3
3.2 STRATEGIES…………………………………………………………… 4
4. ETHICAL PRINCIPLES………………………………………………………… 7
5. MECHANISMS FOR IMPLEMENTATION…………………………………… 7
6. MONITORING AND EVALUATION…………………………………………… 9
7. REFERENCES
APPENDICES
Appendix A: Guidelines for thalassemia screening at health clinic…….. 10
Appendix B: Guidelines for provision of comprehensive
care in pregnancy……………………………………………… 16
Appendix C: Guidelines for ‘Cascade’ screening for thalassaemia
index cases and carriers……………………………………… 18
Appendix D: Garis panduan Sambutan Hari Talasemia Antarabangsa.. 20
FLOW CHARTS / TABLES
Rajah 1 : Carta Alir Makmal Saringan Talasemia
(Peringkat Perkhidmatan Kesihatan Primer)………………… 22
Rajah 2 : Carta Aliran Penyaringan ‘Cascade’
(Peringkat Perkhidmatan Kesihatan Primer dan Sekunder).. 23
Rajah 3 : Carta Aliran Penyiasatan Anaemia di kalangan Ibu Hamil…
24
Jadual 1: Interpretasi Kombinasi Lazim Keputusan Makmal
dan Kaunseling Pasangan……………………………………… 25
1

8. ACKNOWLEDGEMENTS……………………………………………………….. 26
NATIONAL THALASSAEMIA SCREENING
PROGRAMME
1. INTRODUCTION
1.1 Thalassemia and abnormal heamoglobins are the most common genetic
disorders world wide. It is estimated that over 300,000 affected children are born
each year, most with sickle cell disease, while 60,000 – 70,000 are born with beta
thalassemia major.
1.2 In Thalassemia, the normal in formation of red blood cells is affected. This is due
to reduced synthesis of globin chains resulting in ineffective erythropoesis, chronic
hemolysis and anemia.
1.3 Defective genes can be inherited from either parents. There are two main types of
thalassaemia, alpha or beta. Clinically, it can manifest as thalassaemia minor
(carrier) or thalassaemia major (patient). Most thalassemia minors or carriers are
not aware of their genetic status because the clinical signs are not well defined.
They will only know after undergoing blood tests. Likewise a child with
thalassaemia major will appear normal at birth. However, the signs and symptoms
of anemia will begin to develop from 3 months onwards and will progress
chronically.
1.4 Although being carrier of the thalassaemia trait has no adverse health effects, if a
carrier has a child with another carrier, every pregnancy will have a 25% risk of
producing a thalassaemia major, 50% risk of producing a thalassaemia monir or
carrier and 25% risk of producing a normal child.
1.5 Patients of thalassaemia major require, life-long blood transfusion to maintain
haemoglobin levels of above 10 gm%. Patients also require regular chelation
therapy to prevent the effects of iron accumulation, which has to be administered
daily in high doses. Psychosocial support is important to help patients and
parents cope with the physical demands of the disease. Provision of
multidisciplinary care will prevent and manage complications in vital organs such
as endocrine glands, liver and heart. The quality and quantity of treatment is
directly linked to the patients’ quality and length of life.
2

1.6 Fatalities due to untreated or inadequately treated thalassaemia is high. There
are currently no local data on survival studies in Malaysia, but early deaths due
to complications are not uncommon observations in the local hospital practice.
International studies on survival in thalassaemia major showed that survival
ranges from 15 – 29 years for patients treated at various specialist centres in
Europe. The major cause of death is due to cardiomyopathy secondary to iron
accumulation in the heart. The other significant causes of death are infection and
liver disease.
1.7 Thalassaemia in general constitutes a major public health problem as seen in
countries with high prevalence of the condition. Developing a prevention
programme is important in reducing the birth of blood transfusion dependent
thalassaemia, in curbing the cost implications in the provision of optimal care for
patients and in alleviating life-long socio economic burden on patients, families
and government. The appropriate strategy for initiating any thalassaemia
prevention programme depends on the local situation which includes cultural,
religious and ethical practices. Therefore an effective thalassaemia service
delivery is by integrating the services at all levels of health care so as to take full
advantage of the existing resources and maximize efficiency.
1.8 Prevention is cost effective. Experiences from Cyprus, a country which has
successfully reduced the thalassaemia prevalence indicated the cost of 8 weeks
prevention was equivalent to the cost of 1 week treatment for thalassaemia
population. Cost benefit analysis in the United Kingdom, Sardinia, Greece and
Canada have shown that the cost of a nationwide thalassaemia prevention
programme are trivial compared with the benefits of reducing treatment cost. In
United Kingdom, the estimated cost for comprehensive treatment of beta
thalassaemia major ranges from 188,000 pounds to 226,000 pounds.
1.9 The approach to dealing with the thalassaemia problem is to prevent and control
the birth of new cases. The World Health Organization recommended a
comprehensive strategy combining best possible patient care with prevention
through community information, carrier screening and counseling. In societies
where prenatal diagnosis os available and possible, high risk couples request
prenatal diagnosis and this approach greatly reduces the numbers of affected
births.
3

2. THALASSAEMIA SITUATION IN MALAYSIA
2.1 Thalassaemia is the commonest inherited blood disorder in Malaysia. Even
though the carrier rate is only at the level of 3-5%, intervention is important
because of the impact of the disease and its treatment on the patients, families
and nation. There are an estimated number of 120 – 350 babies born with
thalassaemia major each year, and at one time there are more than 3,200
registered transfusion dependent patients. This number will cumulatively
increase every year posing enormous psychological, social and economic
constraints not only to patients and families, but also to government in ensuring
optimal care.
2.2 In 2004, the Ministry of Health established the Thalassaemia Prevention and
Control Programme with the objective to reduce morbidity and mortality among
the thalassaemia patients; to reduce the prevalence of blood transfusion
dependent thalassaemia cases and to create awareness regarding thalassaemia.
These will be achieved through strategies such as optimal patient care, adequate
and safe blood supply, screening for carries and provision of genetic counseling,
provision of prenatal diagnosis, adequate laboratory support, health promotion,
development of a National Thalassaemia Patient Registry, interagency
collaboration and cooperation, and research and development.
3. THE NATIONAL THALASSAEMIA SCREENING PROGRAMME
3.1 OBJECTIVES
3.1.1 General objective
To identify carriers of thalassaemia in order to assess the risk of an individual
having a affected child and to provide information on the options available to
avoid such eventuality.
3.1.2 Specific objectives
a) To strengthen screening services for thalassaemia among siblings and
other family members of index case (cascade screening)
b) To provide screening for thalassaemia in targeted population
c) To provide public education on thalassaemia
d) To provide genetic counseling services at primary health care level
e) To upgrade and expand screening and diagnostic laboratory services
f) To plan and develop prenatal diagnostic services
4

3.2 STRATEGIES
3.2.1 Strengthening of cascade screening of index case
Cascade screening, also known as inductive screening or extended family
testing refers to the heterozygotes testing of relatives of known cases and
carriers of thalassaemia. In many countries, this approach has shown to be
feasible and has resulted in high pick up rate. It is a powerful means of
improving the effiency of carrier identification.
This family centred approach is currently being practiced in hospitals
providing management of thalassaemia patients in Malaysia. For every case
of thalassaemia major detected it is recommended these relatives be tested
for carrier status:
• Parents and siblings
• Uncles and aunties from both father’s and mother’s sides
• First cousins from both father’s and mother’s sides
Voluntary testing of relatives can be done at the respective hospital where the
index case is managed or referred to health clinic of choice. It should be free
of charge. Relatives identified as carriers should be given genetic counseling.
3.2.2 Target screening
Target screening is restricted to a particular population group or groups. All
screening activities should be carried out on a voluntary basis and free of
charge.
i) Adolescents and young adults screening
Screening will be offered to all adolescents and young adults, preferably
before they are married. In many countries screening of school students
above the age of 16 years has been successful without any apparent
psychological or social harm, and despite the time lapse between screening,
information and pregnancy, the information was well conserved and resulted
in testing of the partner. Those detected as carriers will have their parents
and siblings screened. Settings that will be utilized for screening are :
• Schools – school settings have the advantage of reaching a majority of
the population and is able to provide increased options to those identified
as carriers (i.e. not to marry another carrier.) Screening in schools will be
limited to high prevalent areas and will be expanded in phases in tandem
5

with the capacity and capability of primary health care services, namely
the school health and laboratory services. A national roll out will be done
incrementally.
• Camps – adolescents and young people in camps such as the Pusat
Latihan Khidmat Negara camps and others will be screened.
• Health clinics – adolescents attending Adolescent Health Clinics will be
screened.
ii) Comprehensive care for pregnant women
Women detected for anaemia in early pregnancy will be investigated for
thalassaemia. It is to ensure proper and evident-based management of
patients, while preparing them on current and subsequent pregnancies.
3.2.3 Training
Genetic counseling is a process of providing information to at-risk individuals,
couples an families about a genetic condition in particular information about
the diagnosis, recurrence risk, burden of the disorder and the various
reproductive options together with helping the families coming to terms with
the issues in non-directed manner. A National Training Module for
Thalassaemia Counsellors has been developed, and regular training has
been conducted since 2006. Teams of health care providers at every state
comprising of pediatricians, obstetricians, physicians, family medicine
specialists, school health team members, medical assistants, nurses and
counselors have been trained using the above module. Echo training is
encouraged at state and district level.
3.2.4 Health promotion
Health education and promotion have taken careful reference to local cultural,
religious and social factors. Printed materials in 4 main languages are
available in Malaysia and there has been initiatives to develop them in
dialects for minority groups in Sabah. A national plan of action has been
developed since 2005 which include amongst others, the development of
health education materials for use in hospitals, health clinics and public
campaigns and the recognition of the International Thalassaemia Day as an
official national event for public and professional education. The latter activity
enhanced collaboration with academic, professional bodies and non
government organizations such as thalassaemia societies. Since 2006,
thalassaemia is included in the in-service training of science teachers
throughout Malaysia.
6

3.2.5 Strengthening of laboratory services for screening and diagnosis
The parameter to identify carriers is the means corpuscular haemoglobin or
MCH, where it is agreed that a values of less than 27 picogram indicates the
need for further investigation. Health clinics providing screening services are
equipped with hematology analyzers and trained medical laboratory technicians.
At the secondary level, automated High Performance Liquid Chromatography
(HPLC) and Gel Electrophoresis are made available at designated hospitals
laboratories, namely Hospital Pulau Pinang, Hospital Sultanah Bahiyah Alor
Setar, Hospital Kuala Lumpur, Hospital Sultanah Aminah Johor Bahru, Hospital
Tg. Afzan Kuantan, Hospital Raja Perempuan Zainab II Kota Bahru, Hospital
Queen Elizabeth Kota Kinabalu and Hospital Umum Sarawak. Futher
confirmation can be made at Institute for Medical Research and Hospital Kuala
Lumpur where molecular studies are available.
3.2.6 Development of prenatal diagnostics services
Prenatal diagnosis is any diagnostic procedure used to determine whether a
foetus has a genetic abnormality. There is a need to strengthen prenatal
diagnosis services for provide options for families with thalassaemia.
3.2.7 Development of monitoring and surveillance system
i) Health Clinic :
Monitoring of screening activities are captured in the existing records in health
clinics
• Rekod Harian Beban Kerja Klinik Kesihatan RHBKKK/101/2007. This will
provide a record of the number of screening tests done daily by respective
health care provider at the clinic. Compilation will be done by the senior
assistant medical officer
• Rekod Keputusan Makmal Saringan Talasemia ST/101/M/2008. This will
provide a record of clients by name, date and results based on 3 groups: HB
normal MCH>27 pg; Hb normal MCH ≤27 pg. The record is the responsibility
of the respective medical laboratory technician.
• Rekod Susulan Saringan Talasemia ST/101/K/2008 – a registration of clients
screened positive (i.e. MCH below 27 pg) and results of subsequent tests.
This record is the responsibility of the respective Family Medicine Specialist
or Medical Officer in-charge.
7

• Reten Saringan Talasemia ST/201/K/2008 untuk 6 bulan – This is a 6 months
summary made by clinic/district/state. It provides the number of tests done
and results based on 3 groups: HB normal MCH>27 pg; Hb normal MCH <27
pg; an HB low, MCH ≤27 pg, and the number of confirmed carriers.
ii) Clients:
Clients who are identified to be carriers of beta thalassaemia or haemoglobin E
are given reminder cards KAD STATUS PEMBAWA to be kept as personal
reference.
4. ETHNICAL PRINCIPLES
The document ‘Guidelines on Ethical issues in Medical Genetics and Genetic
Services in Malaysia’ MOH/P/PAK/120.06(GU) applies to thalassaemia
screening and management.
5. MECHANISMS FOR IMPLEMENTATION
REFER TO RECPECTIVE APPENDIX:
5.1 Guidelines for thalassaemia screening at health clinic (page 9)
5.2 Guidelines for provision of comprehensive care in pregnancy (page 15)
5.3 Guidelines on cascade screening for thalassaemia index case and carriers
(page 17)
5.4 Garis Panduan sambutan Hari Talasema Antarabangsa (page 19)
6. MONITORING AND EVALUATION
6.1 Coverage
6.1 Number of newly diagnosed thalassaemia major patients by year
6.2 Number of clients screened for thalassaemia annually
6.3 Number and percentage of clients screened by age group.
6.2 Laboratory services
These parameters will be monitored:
a) Timeliness of the full blood count results at the clinic (LTAT less
than 45 minutes)
8

b) Performance in external QAP for Full Blood Count (in health clinics)
6.3 Health promotion
Effectiveness studies for printed media, electronic media and others, with specific
time frame
6.4 Training
a) Percentage of laboratory staff trained
b) Total number of health care providers trained using the National Training
Module for Thalassaemia Counselors
c) Percentage of health care providers trained who are certified as
thalassaemia counselors (by category)
d) Total number of clinical geneticists in Ministry of Health
6.5 Outcome Indicators and Targets
a) Percentage of new index cases that have completed cascade screening
amongst all new cases for the year. Complete cascade screening for
index case is defined as: all siblings and both parents are screened (first
degree relatives)
Targets :
• more than 95% of siblings and parents to index cases completed
screening by 2015
• more than 60% of aunties/ uncles of index cases completed screening
by 2015
b) Percentage of thalassaemia carriers detected among clients who have
been screened.
Targets:
• more than 30% of the targeted population screened by 2015.
6.6 Impact indicator and target
Incidence of transfusion dependent thalassaemia = number of new transfusion
dependent thalassaemia patients registered in a year
9

Target:
• Reduction in the incidence of transfusion dependent thalassaemia by
20% in the year 2015. This will be based on data obtained from National
Thalassaemia Registry, using 2007 data as baseline.
7. REFERENCES
1. Guidelines For The Control Of Haemoglobins Disorders, 6th
Annual Meeting of WHO
working Group on Haemoglobinopathies, Sardinia 1989
2. Guidelines on Ethnical issues in Medical Genetics and Genetic and Genetic Services
in Malaysia, Ministry of Health. MOH/P/PAK/120.06
3. Health Technology Assessment Report on Management of Thalassaemia, Minsitry of
Health Malaysia. September 2003
4. Prevention of thalassaemias and other hemoglobin disorders 2005. Thalassaemia
International Federation
10

APPENDIX A
GUIDELINES FOR SCREENING OF THALASSAEMIA IN HEALTH CLINICS
NO. STRATEGY ACTIVITIES ACTIONS BY: INDICATORS
1.
Health promotion & blood
testing
(see Rajah 1 & Rajah 2 for
algorithm)
• Health promotion
for secondary school children;
include as part of routine school
health activities in form of health
talks, giving pamphlets – to
incorporate in annual calendar
for teachers and parents through the
school’s parents teacher association
• Scho
ol Health Team
• Clinic
Advisory Panel (Panel
Penasihat Kesihatan)
70% of students in government
secondary schools (aged 15 to
19 years old)
for university / college students;
Pamphlets distribution during
orientation week (for subsequent
blood testing at university hospitals,
nearest health clinic.
District Health Office -
and blood testing for PLKN trainees
• Distri
ct Health Office
70% of PLKN camps
participate in the thalassaemia
screening programme
80% of PLKN trainees are
screened
• Health promotion Adolescent Health Clinic / 80% of eligible walk in patients
12

NO. STRATEGY ACTIVITIES ACTIONS BY: INDICATORS
& blood testing for eligible walk-in
patients in OPD and adolescent
health clinics;
OPD and adolescents are screened
• “Health Carnivals”
• Blood donation
campaigns / drives
State Health Office /
District Health Office /
Health Clinic / Hospital /
NGO
• Recording of
screening activities in:
i) Rekod Keputusan Makmal
Saringan Talasemia
(St/201/M/2008)
ii) Rekod Susulan Talasemia
(ST/101/K/2008)
iii) Rekod Harian Beban Kerja Klinik
Kesihatan RHBKKK/101/2007
• Reporting of
screening activities in :
i) Reten Saringan Talasemia
(ST/201/K/2008)
- MLT at health clinics
- FMS/MO
- FMS/MO/MA/SN
- MA/SN
-
13

ST/101/M/2008
REKOD KEPUTUSAN MAKMAL SARINGAN TALASEMIA
Tarikh :
Nama
Jantina Keputusan
Catatan*
Lelaki Perempuan
Hb-normal;
MCH>27pg
Hb-normal;
MCH≤27pg
Hb-low;
MCH≤27pgMengandung
Tidak
Mengandung
*Sila catit samada calitan darah (blood smear) dilakukan atau tidak
**Sila catitkan samada sample darah dihantar ke hospital atau tidak untuk ujian lanjut.
ST/101/K/2008
14

REKOD SUSULAN SARINGAN TALASEMIA
*Kod keputusan: 1. Bukan Pembawa β-Talasemia **Ujian lanjut seperti ujian molekular.
2. Pembawa β-Talasemia
3. Pembawa HbE
4. Lain-lain – nyatakan
15
Bil. Nama No. K.P. Alamat Tel. Jantina Umur Etnik
Tarikh
hantar
HPLC
Tarikh
terima
keputusan
Keputusan*
Tarikh
kaunseling
(β / HbE Tal)

RETEN KEPUTUSAN MAKMAL UNTUK SARINGAN TALASEMIA
Klinik/ Daerah/Negeri
Januari hingga Jun / Julai hingga Disember Tahun :
Bulan
Jantina
Keputusan (Bilangan)
Bilangan kes yang
disahkan
Hb – normal;
MCH > 27 pg
Hb – normal;
MCH ≤27pg
Hb – low;
MCH ≤27pg
L P Jumlah
1 2 3 4 5 6
7
Nota : Kolum 3 = kolum 1 + kolum 2 Jumlah dalam kolum 3 = kolum 4+5+6
APPENDIX B
17

GUIDELINES FOR PROVISION OF COMPREHENSIVE CARE IN PREGNANCY
STRATEGIES ACTIVITIES ACTIONS BY: INDICATORS
1. Health promotion and
health education
2. Blood testing.
(Please refer to Rajah 3
and Jadual 1 for
algorithm)
i) Health talk in antenatal clinics pertaining to anemia in
pregnancy
ii) Development of pamphlet/poster on maternal health
Full Blood Count to be carried out for all pregnant
women at first booking as part of routine blood test.
Counseling of couples should be carried out if the
results are abnormal.
Antenatal mother
Result Full Blood Count (FBC)
If MCH > 27pg and other blood indices normal,
mother will go for normal follow-up
If MCH is ≤ 27pg, mother’s blood will be tested for
haemoglobin analysis and iron studies. At the same
time, to take husband’s blood for FBC
Husband
Public Health
Nurse
Health Education
Division / Family &
Health
Development
Division MOH
FMS/MO/ Public
Health Nurse
FMS/MO
FMS/MO
-
-
100% of pregnant
women at 1st
booking must do Full
Blood Count
18

3. Monitoring and
evaluation
Result FBC:
If husband’s MCH is normal (> 27pg), there will be no
follow up for the husband
If husband’s MCH is low (≤ 27pg), his blood will be
tested for haemoglobin analysis and iron studies.
Results of blood test:
Please refer to Jadual 1 for subsequent actions.
For couples with abnormal blood results should be
referred to O&G specialist for further management
and counseling.
• Recording of screening activities :
i) Rekod Keputusan Makmal Saringan Talasemia
(ST/101/M/2008)
ii) Rekod Susulan Saringan Talasemia
(ST/101/K/2008)
• Reporting of screening activities:
i) Reten Saringan Talasemia (ST/201/K/2008)
FMS/MO
FMS/MO
Medical Laboratory
Technicians
FMS/MO/MA/SN
MA/SN
-
-
-
APPENDIX C
19

GUIDELINES FOR ‘CASCADE’ SCREENING FOR THALASSAEMIA INDEX CASES AND CARRIERS
1. Health Promotion All index cases that have been diagnosed must
be registered in the National Thalassaemia
Registry.
Counseling to patients and their parents
regarding thalassaemia, treatment, prognosis
and risks.
Encouraging parents to disseminate the
information on thalassaemia to other close
relatives.
Hospitals
-Specialist
-Medical Officer
-Counselor
-Geneticist
(if available)
100% patients and
their parents to be
given counseling
2. Blood investigation :
i) Father, mother and
siblings of index
cases
(‘first degree
relatives’)
ii) Uncles, aunties and
cousins
Refer Figure 2 for the flow process on cascade
screening.
Hospital/ Health Clinics/
Thalassaemia Federation of
Malaysia
-Specialist
-Medical Officer
-Counselor
-Health Education Officer
-Trained staff nurse
Medical assistants
Number of ‘first
degree relative’ that
have been screened
(target 100%)
-
20

Laboratory
- Screening tests and confirmatory tests
- Medical lab technician
- Hematologist / Patologist
3. Monitoring and
evaluation
Recording screening activities through:
i) Rekod Keputusan Makmal Saringan
Talasemia
(ST/101/M/2008)
ii)Rekod Susulan Talasemia
(ST/101/K/2008)
iii) Rekod Harian Beban Kerja KIinik Kesihatan
RHBKKK/101/2007
(for health clinics only)
Reporting screening activities through :
i) Reten saringan talasemia (ST/201/K/2008)
Medical lab technician
Specialist/Medical Officer
Medical assistant/ Trained
staff nurse
Medical assistant/ Trained
staff nurse
-
21

APPENDIX D
GARISPANDUAN SAMBUTAN HARI TALASEMIA ANTARABANGSA
PENDAHULUAN
Talasemia adalah sejenis penyakit genetik yang mengganggu pembentukan sel-sel darah
merah yang normal. Pesakit talasemia menghasilkan sel darah merah yang mudah pecah atau
musnah dalam darah. Kekurangan sel darah merah yang normal akan menyebabkan pesakit
tersebut sering kelihatan pucat disebabkan paras hemoglobin yang rendah.
Di Malaysia, talasemia merupakan masalah kesihatan yang besar kerana dari beberapa kajian
yang telah dijalankan menunjukkan bahawa kadar pembawa gen talasemia adalah di dalam
lingkungan 3 hingga 5 peratus atau 1 dalam 20 orang rakyat Malaysia. Dengan itu, dianggarkan
seramai 600,000 hingga 1 juta orang rakyat Malaysia adalah pembawa gen ini.
Walau bagaimanapun, talasemia merupakan satu-satunya penyakit genetik yang telah terbukti
boleh dicegah dan dikawal sekiranya mendapat sokongan padu daripada masyarakat. Kejayaan
program pencegahan dan kawalan talasemia adalah pendidikan kesihatan yang berterusan
dengan sokongan dari semua pihak.
Oleh sebab itu, Hari talasemia Antarabangsa akan disambut pada 8 Mei setiap tahun bagi
mengukuhkan lagi aktiviti penyebaran maklumat dan pendidikan kesihatan mengenai talasemia
serta menyedarkan masyarakat mengenai penyakit ini.
OBJEKTIF
i. Meningkatkan kesedaran dan pengetahuan masyarakat umum mengenai penyakit
talasemia, cara pencegahan dan pengawalannya.
ii. Menggalakkan kumpulan sasar menjalani ujian talasemia
iii. Menggalakkan ibubapa member keizinan/kebenaran anak remaja mereka menjalani ujian
talsemia.
iv. Mencegah berlakunya diskriminasi terhadap pembawa gen talasemia
v. Mewujudkan rasa tanggungjawab dan tindakan masyarakat terhadap penyakit talasemia di
mana setiap individu mempunyai peranan yang perlu dimainkan bagi menyelesaikan
masalah ini.
22

AKTIVITI PERINGKAT KEMENTERIAN DAN NEGERI
Kumpulan Sasar:
1. Ibubapa
2. Remaja 16 tahun ke atas
3. Golongan dewasa muda
4. Adik-beradik kepada pembawa talasemia
5. Golongan professional
6. Petugas kesihatan
Cadangan Aktivit:
1. Seminar/Kursus
2. Forum awam
3. Ujian saringan talasemia dan kaunseling
4. Pameran kesihatan
5. Kajian pengetahuan, sikap dan tingkahlaku (KAP Study)
6. Kempen derma darah
7. Penglibatan media
8. Lain-lain aktiviti untuk pesakit talasemia dan ibubapa seperti aktiviti riadah.
KERJASAMA PINTAR
Kementerian Kesihatan Malaysia samada di peringkat ibupejabat atau negeri perlu menjalinkan
kerjasama pintar dengan Persekutuan Pertubuhan Talasemia Malaysia dan juga Persatuan
Talasemia Negeri serta badan-badan professional yang lain seperti Malaysian Association of
Pediatric Haematology & Oncology (MASPHO), Malaysian Pediatric Association (MPA) dalam
melaksanakan aktiviti-aktiviti berkaitan dengan talasemia bagi mencapai objektif yang telah
digariskan.
PENILAIAN AKTIVITI
Laporan mengenai aktiviti sambutan Hari Talasemia Antarabangsa peringkat negeri perlu
disediakan oleh Pegawai Pendidikan Kesihatan Negeri untuk menilai keberkesanan aktiviti yang
telah dilaksanakan. Laporan yang telah lengkap hendaklah dihantar melalui laman web
Infosihat (http://www.infosihat.gov.my/)
PENUTUP
Aktiviti semasa sambutan Hari Talasemia Antarabangsa ini adalah sebahagian daripada wadah
untuk mencapai objektif seperti yang telah digariskan. Program ini amat wajar dilaksanakan
bagi mendedahkan kepada masyarakat tentang penyakit talasemia dan kepentingan menjalani
ujian saringan talasemia.
23

Rajah 1
9.1 Carta Alir Makmal Saringan Talasemia
(Peringkat Perkhidmatan Kesihatan Primer)
Ada
24
Ada
Tidak
Ya
Ya
Tidak
Ya
Tiada
> 27pg
Full Blood Count (FBC)
OPD
Ambil 2.5ml darah
dalam tabung EDTA
≤27pg
Tiada tindakan lanjut 1. sediakan calitan darah periferi
2. beri tarikh temu janji kepada klien
Hantar ke hospital untuk analisa Hb:
1. calitan darah periferi
2. keputusan FBC
3. baki darah dari FBC (tiub EDTA)
4. borang PER PAT 301 (lengkap diisi)
Definitive
Diagnosis
Kaunseling
1.Ujian status ferum
2.Rawatan percubaan ferum
Rawatan
berkesan?
Ambil darah untuk analisa DNA
Keputusan
definitif
Disyaki
kekurangan
ferum
Teruska
n
rawatan
Tiada
Teruskan
rawatan
Pembawa talasemia atau
talasemia intermedia
YaTidak
Kaunseling
Penyiasatan lanjut jika
perlu
Berikan kad status pembawa kepada
pembawa beta-thal dan HbE

Rajah 2
9.2 Carta alir Penyaringan ‘Cascade’
(Peringkat Perkhidmatan Kesihatan Primer dan Sekunder)
25
Ya Ya
Tidak
Ya
Tidak
Ya
Tidak
Kes indeks – Talasemia Major
Buat temujanji untuk ujian saringan kepada kumpulan sasar berikut:
1. Adik beradik + ibubapa kepada kes indeks
2. Sepupu dan ibubapa saudara kepada kes indeks
Di Peringkat Perkhidmatan Kesihatan Sekunder
Ambil darah untuk ujian berikut:
1. FBC dalam satu tiub
2. Hb analisis EDTA
3. ujian status ferum (sekiranya perlu)
Di Peringkat Perkhidmatan
Kesihatan Primer
(sila rujuk carta alir 1)
Hantar ke makmal patologi hospital
berkenaan bersama borang PER
PAT 301 (diisi lengkap)
Definitive
Diagnosis
Kaunselin
g
Ambil darah untuk analisa DNA
1.Kaunseling
2.Penyiasatan lanjut jika perlu
Kekurangan ferum
Beri rawatan
Rawatan
berkesan
?
Teruskan
rawatan
Keputusa
n definitif
Pembawa talasemia
Tidak
pembawa beta-thal dan HbE

Rajah 3
Carta Alir Penyiasatan Anemia Dikalangan Ibu Hamil
26
MCH
> 27pg ≤ 27pg
Tiada
tindakan
lanjut
Ambil darah dari suami untuk FBC
Hantar baki FBC untuk Hb
Analysis (bersama sampel
(1,2 & 3) ke makmal hospital
Keputusan FBC
≤ 27pg
(rujuk carta alir 1)
> 27pg
Tiada
tindakan
lanjut
Interpretasi kombinasi lazim keputusan makmal &
kaunseling pasangan
(sila rujuk jadual 1)
Ambil 10 ml darah dari ibu untuk ujian berikut:
FBC 1. status ferum ikut prosedur
2. VDRL sediada
3. ABO Group and RH
pembawa beta-thal atau HbE

Jadual 1: Interpretasi Kombinasi Lazim Keputusan Makmal & Kaunseling Pasangan
Bil. keputusan Tindakan
(Catatan)Ibu hamil Suami
1. Kekurangan Ferum Kekurangan Ferum Rawatan
2. Pembawa α-talasemia normal Kaunseling (tiada anak akan
mendapat talasemia intermedia)3. normal Pembawa α-talasemia
4. Pembawa α-talasemia Pembawa α-talasemia * Kaunseling segera
(kemungkinan mendapat anak
talasemia intermedia atau ‘hydrop
fetalis’)
5. Pembawa β-talasemia Normal Kaunseling (tiada anak akan
mendapat talasemia intermedia
atau talasemia major)6. normal Pembawa β-talasemia
7. Pembawa β-talasemia Pembawa β-talasemia *Kaunseling segera
talasemia major)
8. Pembawa Hb varian
(contoh pembawa HbE)
normal Kaunseling (tiada anak akan
mendapat talasemia intermedia)
9. normal Pembawa Hb varian
Pembawa Hb varian
Kaunseling (kemungkinan
mendapat anak homozygous Hb
varian)
Pembawa β-talasemia *Kaunseling segera
talasemia intermedia)
12 Pembawa β-talasemia Pembawa Hb varian
13. Pembawa β-talasemia Pembawa α-talasemia Kaunseling (tiada anak akan
mendapat talasemia intermedia
atau talasemia major)14. Pembawa α-talasemia Pembawa β-talasemia
* berkemungkinan memerlukan diagnosa prenatal
27

ACKNOWLEDGEMENTS
MEMBERS OF THE NATIONAL TECHNICAL COMMITTEE
FOR NATIONAL THALASSAEMIA SCREENING AND PREVENTION PROGRAM
Advisors:
Dato’ Dr. Narimah Awin (until December 2006)
Director
Division of Family Health Development
Ministry of Health Malaysia
Dr.E.G. Palaniyappan (until November 2007)
Director
Ministry of Health Malaysia
Working group for Policy Development and Guidelines for National Thalassaemia
Screening & Prevention Program (alphabetical order)
Dr. Abu Hassan Shaari Abdul Kadir
Senior Principal Assistant Director
State Health Office, Kelantan
Puan Aina Mazwim Mohd. Radzi
Counselor
Penang General Hospital
Dr. Aslinda bt Hj. Ahmad
District Health Officer
Jasin Health Office
Puan Besah Gasar
Health Sister
Batu Pahat District Health Office, Johor
Cik Boon Kim Kiew
Medical Laboratory Technician
Timur Laut Health Office, Penang
Puan Fitamah bt Mahmood
Health Sister
PKD Kuala Terengganu
Dr. Hamimah bt Saad
Family Medicine Specialist
Putrajaya Health Clinic
Encik Abdul Wahab Zakaria
Medical Assistant
Shah Alam Health Clinic
Prof. Dr. A. Rahman A. Jamal
Director & Consultant Pediatrician
UKM Medical Molecular Biology Institute
En. Balan A/L N.S. Menon
Seberang Jaya Health Clinic, Penang
Puan Bibah Bulat
Health Matron
Nursing Unit, Ministry Of Health
Dr. Faridah bt Abu Bakar
MCH Officer
State Health Office, Perak
En. Frankie O’Brian
PKD Keningau Sabah
28

Dr. Hishamshah b. Mohd. Ibrahim
Consultant Paeditrician
Pediatrics Institute, Hospital Kuala Lumpur
Dr. Iskandar Firzada b. Osman
Jaya Gading Health Clinic, Kuantan,
Pahang
Dr. Keng Wee Teik
Consultant Pediatrics & Geneticist
Hospital Kuala Lumpur
Dr. Maimunah Bt. Fadzil
O&G Specialist
Hospital Melaka
Dr. Mymoon Bt Alias
Deputy Director
Ministry of Health
Dr. Rachel Koshy
Ministry of Health
Puan Rasilah Ramli
Health Matron Penang
Dr. Rokiah Mohd
MCH Officer
State Health Office Penang
Dr. Rozita Hod
Ministry of Health
Dr. Samihah Mohd Shariff
Medical Officer
School Health Team Penang
Dr. Selva Kumar a/l Sivapunniam
Paedriatrician
Hospital Tg. Ampuan Afzan Kuantan
Sinnappan a/l Anthony
Medical Assistant
Green Town Health Clinic
Puan Jenny Lee Poh Lean
Staff Nurse
Penang General Hospital
Cik Lily Teresa
Tanglin Health Clinic
Dr. Mohd. Daud Che Yusof
State Health Office, Johor
Prof. Madya Dr. Narazah bt. Mohd Yusoff
Universiti Sains Malaysia
Raja Mohamad b. Raja Kadir
Medical Assistant
Pengkalan Chepa Health Clinic
Dr. Redzal b. Abu Hanifah
District Health Office
Kota Belud Sabah
Dr. Roshidah Hassan
Senior Consultant Pathologist
Patology Department, HKL
Dr. Safiah Bahrin
Ministry of Health
Dr. Sanidah Md Ali
Seri Kembangan Health Clinic
Dr. Siti Kamariah Ahmad
Bayan Lepas Health Clinic
Sinnasamy a/l Nallatamby
29

District Health Office Jasin Melaka
Dr. Soo Peng Yen
Consultant Pathologist
Penang Hospital
Prof. Thong Meow Keong
Senior Consultant Peadiatric
Peadiatrics Department UM
Puan Victoria Ponnusamy
Ministry of Health
Dr. Zainuddin Mohd Ali
Disease Control Division
Ministry of Health
Secretariat
Puan Norani Awang
Cik Nor hayati Bt. Mustapa Kamal
Dr. Soo Thian Lian
Peadiatric Consultant & Head of
Department Hospital Likas Sabah
Dr. T.P. Baskaran
Consultant O&G
Hospital Kuala Lumpur
Dr. Zabedah Baharudin
Johor
Prof. Madya Dr. Zarina Abd. Latif
Consultant Pediatrician Pediatrics
Department, HUKM
Cik Nur Eliana Mohd Ariff
Puan Tumirah Swandi
30

National Thalassaemia Screening Program , Malaysia

Empfohlen

Empfohlen

Weitere ähnliche Inhalte

Was ist angesagt?

Was ist angesagt? (20)

Andere mochten auch

Andere mochten auch (20)

Ähnlich wie National Thalassaemia Screening Program , Malaysia

Ähnlich wie National Thalassaemia Screening Program , Malaysia (20)

Mehr von HCY 7102

Mehr von HCY 7102 (20)

Kürzlich hochgeladen

Kürzlich hochgeladen (20)

National Thalassaemia Screening Program , Malaysia