Steps towards the prevention of Hemoglobinopathies in the Kingdom

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					                 1st Pan-Middle East Conference
                 On Hemoglobinopathies
                 Damascus, Syria 1–2 May 2009




Steps towards the prevention of Hemoglobinopathies in
            the Kingdom of Saudi Arabia


             Mohammad Al Shahrani, MD

              Consultant Pediatric Hematology/
                      Oncology
              Member, Hereditary Blood Diseases
                     Committee
Kingdom of Saudi Arabia




      Total:2,149,690sqm
Jordan


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                  INTRODUCTION
•   Hemoglobinopathies ,inherited metabolic disorders, neurogenetic disorders
    and birth defects are relatively common among the population .
•   The population is characterized by a high consanguinity (25-75%) and high
    percentage of first-cousin marriages ranging from 40% to 50%.

                                      journal of inherited
    Metabolic Disease ,vloume30,number 4/August ,2007

     Hereditary blood disorders in K.S.A.

     –Sickle cell disease (SCD)
     –Thalassemia.
     –Hemophilia
     –G6PD deficiency
    Distribution of Hemoglobinopathies
               Among Saudis

               Beta thal
               Major, 12
S/Beta thal,
    14




                              HbS, 74
GEOGRAPHIC DISTRIBUTION OF
HEMOGLOBINOPATHIES
           Distribution of Hereditary
                 Blood in K.S.A
Studies conducted in KSA demonstrated that :

  The following regions have the highest
  prevalence of the diseases :
   1.Eastern province
   2.Southwestern provinces
   3.Medina Munawarah province.
   4.Western province.

                        Alhamdan NA, et al. Genet Med .2007 Jun;9(6):372-7
                                 Sickle cell anemia                THALASSEMIA
   Region        Exam. Cases
                               carrier%        Diseased %   carrier%       Diseased %


   Riyadh          104802       2.08              0.15       20.1             0.15

  MAKKAH            26945       3.12              0.10       2.72             0.01

   Jeddah           43279       3.46              0.04       1.23                0

  MEDINAH           31183       2.06              0.13       0.41             0.07

  QASSIM            27333       0.21              0.01       0.11             0.02

   TAIEF            27287       1.07              0.01       0.43                0

   HAEIL            13892       0.14              0.06       0.02                0

  AL BAHA           14442       3.34              0.02       0.76             0.01

   ASSIR            47177       2.89              0.08       0.30             0.01

EASTERN REGION      42095       10.74             0.87       19.50            0.06

    AHSAA           27238       16.89             1.20       3.10             0.08

  QUNFADAH          5166        12.66             0.31       15.85               0

HAFR EL BATEN       7989        0.39                  0        0              0.01

   GAZAN            23012       11.73             0.90       7.81             0.39

  NAGRAN            9260        1.57              0.02       0.02                0

   BISHA            7902        1.99              0.01       0.04             0.01

  TABOUK            13798       2.24              0.24       0.30             0.01

   ALJOUF           6008        0.18              0.05       0.07                0

 NORTHERN           5891        0.24              0.05       1.85             0.27
  REGION
  GURAYAT           3716        0.38                  0      0.43                0
           EASTERN PROVINCE SCD

 *20-30% Heterozygous Newborn
 *1.6-2.3% homozygous newborn
                                     Alhamdan NA, et al. Genet Med .2007 Jun;9(6):372-7


Features
 Less severe hemolysis
 Higher Hb. & lower Retics
 Fewer painful crisis
 Longer survival
 Higher HbF
                             El-Hazmi MA ,et al .East Mediterr Health J.1999 Nov;5(6):1154-8
       WESTERN PROVINCE SCD


    More severe painful crisis, and acute chest
    syndrome
    Functional hyposplenia      fatal meningococcal
    & pneumococcal infections

*

                             Al-Hawsawi ZM.Saudi Med J.2001 Dec;22(12):1076-9.
             Strategic plan
Neonatal Screening Program:

 A National Program for Neonatal Screening
 have been introduced for a number of metabolic,
 endocrine and hereditary diseases including
 Sickle Cell Disease .
 Participate and learn from local and International
 Symposium
 Establishment of Hereditary Bloods Diseases
 Clinic and Centers
                       STATISTICS

National statistics:

  A study (2004 – 2007) involving
 1.000.000 cases in the premarital
 screening program showed that:
              Thalassemia No.& %            Sickle cell disease No.
Year No.
Screened
              cases          Trait          Case            trait

 2004      204 (0.08 %) 7746 (3.20%)     645 (0.27 %) 10141 (4.19%)
241825
 2005      144 (0.06 %) 7944 (3.24 %)    606 (0.25 %) 10389 (4.21%)
246490
 2006      88 (0.04 %)   5223 (2.21 %)   706 (0.30 %) 10094 (4.27%)
236629
 2007      95 (0.04 %)   2317 (0.91 %)   812 (0.32 %) 11231 (4.39%)
255894
TOTAL      531 (0.05 %) 23280(2.37 %) 2796(0.28%) 41855 (4.27%)
980838
Sickle cell disorder prevalence:

S.C   disease                0.26%
S.C   carriers              04.27%
Thalassemia prevalence :

Thalassemia disease                 0.07%
Thalassemia carrier                02.37%

                     Alhamdan NA, et al. Genet Med .2007 Jun;9(6):372-7
                          Strategic plan

   Blood diseases centers & units:

 Establishment of centers and units for hereditary blood
 diseases in regions of high prevalence as follows:
1. Al Ahsa
2. Al Qatif
3. Gazan
4. Medina Munawarah
5. Makah Mokarramah
 Establishment of units for hereditary blood diseases in the
 future in regions of low prevalence (immigration and change
 of localities) .
Premarital screening
Healthy marriage Program (Premarital screening) :

 In 2004 a Royal decree was issued entailing the establishment of a national
 wide obligatory premarital screening program.
 This procedure is a prerequisite for writing down the contract. The choice of
 completing the marriage is given to two spouses regardless of the test result
 whether positive or negative”.
                                                 El-Hazmi Saudi Med J 2006 Sep;27(9);1291-5

 In its preliminary stages, The Saudi premarital screening program
 only covered Sickle cell disease and Thalassemia ( most common in
 KSA)..
 In this year (2008) the scope of the program was extended to include (HIV)
 and hepatitis (B&C) .
 Genetic counseling is provided for couples.
It started with:
  131 reception centers & labs.
  20 genetic counseling clinics.
   7 centers in governmental sectors.
  Aims
• Prevent re-occurrence in affected families and close
  relatives
• Increase awareness through genetic counseling
• Improve clinical care
                             Summary of The Study
Number of Examined Cases                                                     488.315

Percentage of Sickle cell Anemia (Carrier Cases)                         4.2     %

Percentage of Sickle cell Anemia (Diseased Cases)                        0.26 %

Percentage of thalassemia Carrier Cases                                  3.33 %

Percentage of thalassemia Diseased Cases                                 0.07 %

Number of Couples                                                       207.333
Number of Couples at High Risk                                               2375
Percentage of Couples at High Risk                                      2.14 %
Percentage of Couples at High Risk who completed                       89.6 % *
Marriage

The real number of cases in each province included in the study should be
  taken in consideration for proper planning.
 *This percentage continues to decrease gradually , and it was 62% in 2007
         The scientific Advisory committee for
          Hereditary Blood diseases centers:
In (2008), an advisory scientific committee from specialists in the
     field was formed by MOH to establish :
1. To develop and ensure the standards of care for patients with HBD.
2. Involve in designing and structuring of HBDC.
3. High quality care standards.
4. Recommending for needs of HBDC of trained personnel.
5. Involved in establishing Polices & procedures
6. Establish Job description for personnel
7. Recruitment of manpower, equipment and material .
8. Quality assurance and Quality control
9. Clinical guidelines and treatment protocols.
10. Training programs and scientific research.
11. Community visits and care/ survey
12. Public education and awareness programs
13. Involved in the strategic planning in hereditary blood disorders.
14. Collaborate with local international organizations in this field
               Role of HBDC
• Provide optimal care for hereditary blood
  diseases' patients .
• Perform standard diagnostic tests within the
  center. More sophisticated tests performed in
  associated central hospital
• Provide high standards of treatment ( drugs,
  blood products).
• Psychological support through specialized
  personnel.
• Medical and social services facilities to serve in
  and reach remote areas.
• Home visits and transport team.
        Role of HBDC ( continue)

• Educate and train medical staff and
  volunteers.
• Connected to other HBDC through a
  network.
• Premarital screening role.
• Collaborate with other medical and
  surgical specialties ( hepatology, ortho,
  dental, radiology, endocrine)
• Genetic counseling
       1st Pan-Middle East Conference
            On Hemoglobinopathies
          Damascus, Syria 1–2 May 2009




What have we achieved since we
 met in Singapore October 2008?
Progress activities of The TASK

• Future planning for MOH 20 HBDCs proposal.
• submitted to MOH Structure and Staffing for
   HBDC proposal for approval.
• Plans for unified management guidelines are
   underway.
• TASK force plans to reach out endemic areas
 ( field visits, public awareness, educational
   workshop was carried out)
   - Madina region with suburbs
   - Southern region ( Jizan, Samta and Sabia )
                     Progress:
• Professional meetings with Saudi Society Of Hematology
  and Thalassemia/Sickle Society.
• Several Meetings with World Federation Of Hemophilia
  and involved patients and physician
• Working to enhance formation of society in this field as
  will as standard care measures by the treating centers
• Establish collaboration between the Thalassemia-sickle
  cell Society and Hereditary blood disease centers.
• Public Festival of Thalassemia and sickle cell anemia in
  Riyadh(12 March,2009)
• Currently working on patient registry in different parts of
  the country.
          Achievement progress
Public & medical staff awareness
  Baha patients celebration march 2008
  Alula patients celebration march 2009
  Jazan patient’s celebration April 2009
  KAUH patient’s celebration April 2009
  KAUH Thalassemia workshop April 2009
• Alula HBD symposium march 2009
• Jazan HBD symposium April 2009
• Sabia HBD unit was opened on April 2009
       The Ongoing activity up to the end of 2009

• Outreach clinic / workshop
• Mahaiel HBD center well be open On May 2009
• Almandine National multi workshops (for non-
  hematology physicians managing HBD patients,
  Nurses and social workers may 20-21. 2009
• Patients /family workshop at al Mandine November
  2009
• Al Hassa international conference November 2009
• TCD training program June 2009
• Availability of T2* Military Hospital Jeddah
• To ensure modern treatment are accessible and
  available to all patients.
‫ﻋﻴﺎدة اﻟﻄﺒﻴﺐ‬
10 equipped rooms 20 beds
Treatment room
Education hall
 National
    Day
Celebration
Workshop
  For
Patients
 2007




  Annual
Thalassemia
Celebration
  National
Thalassemia
 Workshop
 For nurses
   Scientific Activities


Annual Hematology Symposium
Thanks