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  May 02, 2012

Chitral Times Detail

In The Name of ALLAH The Almighty

Please do not reinvent the wheel—Thalassemia prevalence needs attention

By: Dr. Saqib Ansari (consultant Pediatric Hematologist) and Miss Salima Muhammad Khowaja (BScN, Clinical Research Associate)

Thalassemia is a genetically transmitted blood disease which results from a reduced rate of synthesis of Hb chains (due to mutated or absent beta globin genes). Genetic defects of Hb are the most common genetic disorders worldwide with the prevalence of thalassemia of 5-8% in Pakistan contributing to the disease burden and high mortality rates. Born child with thalassemia can be carrier of the defected gene (thalassemia minor without the manifestation of symptoms) or as thalassemia major (that is the manifested case of thalassemia). This grave condition (thalassemia major) attacks the children leaving them dependent on the regular blood transfusions necessary for their survival as they have ineffective erythropoiesis (Red Blood Cells (RBC) production) and hemolysis (early destruction of the RBCs). However, this condition is preventable in nature.

Wide range of preventive strategies can be taken or adopted in order to prevent the cases. These include pre-marital and genetic counselling, prenatal diagnosis and termination of pregnancy (in the case of having Thalassemia major fetus), screening of immediate and extended family of the index child with thalassemia case. Nevertheless, prenatal diagnosis is widely considered as a practical approach for the diagnosis of the chromosomal or genetic disorders of the fetus when both parents are the carriers of thalassemia.

Experience in the field:
We have almost one decade of experience in Thalassemia prevention in Sindh with more focus in interior Sindh particularly in Badin, Nawab Shah, Jacobabad and Sukkar. Omair Sana Foundation (OSF) and National Institute of Blood diseases and Bone Marrow Transplantation (NIBD) are making their endless efforts for contributing to its prevention for years.
In the period of 6 years, 835 high risk women were analyzed in NIBD for beta thalassemia through Chorionic Villus Sampling (CVS), a placental tissue sampling which revealed that 230 (27.5%) fetuses were the case of thalassemia major, 420(50.3%) were carrier of the defected genes or Minor however 185(22.2%) were the healthy fetuses. The procedure was mostly done between 12 and 14 weeks (range 10-16 weeks). Mothers bearing the thalassemia major case were recommended to abort the fetus. Out of which, Seven (3%) couples refused where as 97% agreed to abort the fetus as per recommendations. Hence, 223 potential thalassemia major children were prevented from becoming the part of the present critical journey of survival. Further, it points out that CVS can play an effective role in the early prenatal diagnosis of the thalassemia cases.

We did not find any social, religious or economical issue as the barrier to our efforts as it may be considered else where. However, low level of education and awareness of prevention, diagnosis and treatment of thalassemia in Health Care Professionals (HCPs) and non-serious and non committed attitudes of the Government and non Governmental stakeholders for its prevention, appeared to be the major barriers in order to make the attempted efforts successful.

The way forward:
Prevention seems to be the key to decrease the current prevalence of thalassemia. Undoubtedly, multiple prevention strategies have been effective in preventing Thalessemia cases worldwide as mentioned earlier. However, major focus must be given to the screening of the immediate and extended families of the index child with the thalassemia major case and CVS of thalassemia minor or carrier mothers to diagnose the thalassemia major fetus prenatally leaving an option for parents for the recommended termination of pregnancy. Moreover, we recommend including the thalassemia status in the National Identity Card (NIC) and marriage certificate so that the case may be considered before decisions for marriages.
Besides prevention, early diagnosis with appropriate and timely treatment can ensure the quality of the life that the thalassemia cases survive. Effective method for diagnosis is to perform CBC to identify the potential cases and carriers both. Furthermore, those who are suspected of being thalassemia carriers should be screened by optimized and standardized quality control equipment and technique used for Hb electrophoresis or DNA mutation analysis of thalassemia carrier by ARMS PCR (Polymerase Chain Reaction).

Health Care Professionals play significant role in providing awareness, preventing the cases and managing them timely and appropriately. However, concerned Government officials must initiate their role in forming and strengthening the policies regarding mass screening, awareness program, guidelines for the prevention and treatment as appropriate. Furthermore, role of journalists, print and electronic media is also significant in spreading mass awareness on this health problem.

In conclusion, Thalassemia is graving yet preventable disease. Prevention, early diagnosis and timely management are important to ensure the quality life of patients where Health Care Professionals and Government officials play the significant role. Thus, collective efforts are needed to prevent the occurrence of cases from joining the present vicious cycle.



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