Hunterian Prof.Dr. Umar Sadat from UK and Prof.Dr. Khalid Masud Gondal, Vice Chancellor, FJMU visited the Head Office of the Punjab Thalassaemia and Other Genetic Disorders Prevention and Research Institute (PTGD) attached with FJMU

Hunterian Prof.Dr. Umar Sadat from UK and Prof.Dr. Khalid Masud Gondal, Vice Chancellor, FJMU visited the Head Office of the Punjab Thalassaemia and Other Genetic Disorders Prevention and Research Institute (PTGD) attached with FJMU.
Prof. Dr. Khalid Masud Gondal, Vice Chancellor, FJMU and Prof. Dr. Shamsa Humayun, Vice Chancellor, FJMU visited the Head Office of the Punjab Thalassaemia and other Genetic Disorders Prevention and Research Institute (PTGD). Prof. Gondal was welcomed by the PTGD staff and presented a bouquet of flowers. Dr. Hussain Jafri, Director General, PTGD presented on PTGD and its services across the province of Punjab. The institute is working towards prevention of Thalassaemia major and other genetic conditions in the province by providing comprehensive screening and prevention services including extended family screening, genetic counseling, prenatal diagnosis, pre-marital screening, awareness, research and training free of cost to people in all the 36 of Punjab. Dr. Jafri also thanked the Vice Chancellor for his all-out support to the institute.
Prof. Gondal also visited the PTGD DNA & Haematology labs, offices and other facilities available at the head office. The Vice Chancellor said that it is heartening to see the excellent screening and prevention services being provided by PTGD all over Punjab. He further said that PTGD is the largest prevention program in the world providing screening and prevention services for Thalassaemia totally free of cost. Moreover, PTGD services are being expanded to provide screening and prevention services for other genetic conditions as well and in this regard state of the art molecular and cytogenetics labs are also being established where highly specialized tests such as sanger sequencing, whole exome sequencing, whole genome sequencing, next generation sequencing and latest cytogenetic testing will also be available. Furthermore, Prof. Gondal appreciated the PTGD management and team for running a world class prevention program and promised to continue providing all the required support to the institute.
Punjab Thalassaemia and other Genetic Disorders Prevention and Research Institute (PTGD)
The PTGD is an initiative of the government of the Punjab to provide screening and prevention services for Beta Thalassaemia and other genetic conditions in the province. The PTGD is attached with Fatima Jinnah Medical University, Lahore and provides comprehensive screening and prevention services of genetic conditions in all the 36 districts of Punjab. The PTGD’s head office is based in the outdoor building of Sir Ganga Ram Hospital, FJMU Lahore.
Pakistan is the fifth most populated country in the world and the cultural tradition of consanguineous marriages has resulted in a high prevalence of genetic conditions in the country. Beta Thalassaemia is the most common genetic disorder in Pakistan with a gene prevalence rate of around 6%. This translates that 6 out of every 100 Pakistanis carry this mutant gene. With a population of about 220 million, around 14 million people are healthy carriers of this gene. Thalassaemia is an autosomal recessive disease, which means that if two carriers get married to each other then they will have a 1 in 4 (25%) chance of having an offspring with B-Thalassaemia Major in every pregnancy. Over 6000 affected children are born annually meaning 17 affected children are born each day in Pakistan. These children require regular monthly blood transfusions and chelation therapy to remove the excess iron from their bodies in order to just stay alive.
The Government of Punjab took the lead and initiated Punjab Thalassaemia Prevention Programme (PTPP) in 2009-2010. Prof. Dr. Yasmin Rashid was the first Project Director of the program. The PTPP has been a very successful program, therefore, based on its success, the Specialized Health Care & Medical Education Department Punjab decided to enhance the scope of the project to other genetic conditions as well and decided to make it a permanent program. Therefore, in July 2021 the PTPP was converted into an ongoing program titled “Punjab Thalassaemia and other Genetic Disorders Prevention and Research Institute (PTGD)” as an affiliated unit under Fatima Jinnah Medical University, Lahore.
The PTGD is providing the following comprehensive screening and prevention services for genetic conditions totally free of cost in all the 36 districts of Punjab:
1. Awareness about Thalassaemia and other genetic conditions
2. Screening of carriers (extended family screening)
3. Pre-marital screening for the general public
4. Genetic Counselling
5. Pre-natal Diagnosis
6. Training of healthcare providers
7. Research
PTGD Network & Infrastructure
The institute’s head office is in Lahore with nine regional centers situated in all the nine divisional headquarters of Punjab including at Sir Ganga Ram Hospital, Lahore (head office), Nishter Hospital Multan, Victoria Hospital Bahawalpur, Holy Family Hospital, Rawalpindi, DHQ Hospital, Gujranwala, Sahiwal Medical College, Sahiwal, DHQ Hospital, Sargodha, DHQ Teaching Hospital, DG Khan and Government General Hospital, Ghulam Muhammad Abad, Faisalabad.
Each of the 36 Districts of Punjab are attached to respective regional centers and are proving the above mentioned services. The institute has a community outreach component and in each district there is a mobile field team of PTGD (Field Officers), providing targeted screening (extended families of affected individuals ) as well as premarital screening services to general population at their doorsteps.
Haematology Laboratory
There are 09 haematology laboratories operational in 09 divisions of Punjab and providing free facility of beta Thalassemia carrier screening and diagnosis of all hemoglobinopathies. These laboratories are equipped with latest and fully automated CBC Analyzers (Sysmex), Capillary II Zone Gel Electrophoresis, and High Performance Liquid Chromatography (HPLC). The PTGD also has a comprehensive online lab software with machine integration and real time lab reporting to patients and families.
So far the PTGD has screened over 312,259 individuals of 11,289 Thalassemia families. The results show the effectiveness of extended family screening as one third of individuals in Thalassemia families are coming out to be carriers of beta Thalassemia. These Thalassemia carriers could make informed decisions regarding marriages and seeking prenatal diagnosis so that the births of Thalassemia major children could be prevented.
Prenatal Diagnosis
The development of techniques for diagnosing a genetic disorder in-utero is a major advancement in medical genetics, and it has altered the outlook for families at risk of having affected children.
Prenatal diagnosis is a procedure to diagnose a genetic disorder such as Thalassemia early in the pregnancy.
Chorionic Villus Sampling is a widely accepted and successful method of prenatal diagnosis. Chorionic villus sampling (CVS) is a test carried out during early pregnancy at 11-15 weeks of gestation to detect specific abnormalities in an unborn baby. A sample of cells is taken from the placenta (fetal in origin) and is tested for genetic defects.
The couples who undergo this procedure are counseled before and after the test to make sure they understand why they are taking the test and to receive professional guidance about the choices they have in managing the pregnancy.
DNA Laboratory
The PTGD has established a DNA Lab at Sir Ganga Ram Hospital, Lahore, which is the first public sector DNA lab providing free genetic testing and prenatal diagnosis services for Thalassaemia in the country. The PTGD DNA lab is offering the services of Beta Thalassemia Prenatal diagnosis, Beta Thalassemia diagnostic PCR, PCR SNP analysis for Quantitative trait loci (QTL) in beta thalassemia patients and mutation analysis of other hemoglobinopathies. DNA lab also conducted a number of research work activities for better understanding of the disease. The DNA Lab is using a number of modern molecular techniques, like ARMS PCR, Gap PCR, high resolution melt curve analysis by Real Time PCR and direct DNA sequencing for mutation detection.
Expansion to Other genetic Disorders
In Sept 2022, the Specialized Health Care & Medical Education Department Punjab has approved a PC1 for the expansion of PTGD services to provide screening and prevention services for other genetic conditions as well. Under this initiative, the PTGD will establish state of the art molecular and cytogenetic labs that could provide screening and prevention services through highly specialized tests such as Sanger sequencing, Whole Exome Sequencing, Whole Genome Sequencing, Next Generation Sequencing and latest cytogenetic testing.