Currently about 5,000 children in Pakistan are born with Thalassaemia Major every year and the only treatment is bone marrow transplantation, said eminent Haematologist, Dr Salman N. Adil, stressing on the importance of treatment at an early age before any complications of disease and blood transfusion have occurred.
Dr Adil, Consultant Haematologist and Associate Professor, Aga Khan University (AKU) was addressing Sign, Symptoms and Care, a Public Health Awareness programme organised by Aga Khan University Hospital (AKUH).
Thalassaemia Major is an inherited disorder requiring life long transfusion of blood to sustain life. Most of the children remain under-transfused and develop complications of iron overload and acquired infections leading to early death, informed Dr Adil.
About 5-6 percent of Pakistan's population is carrier of Thalassaemia gene (also called Thalassaemia minor); Thalassaemia major can be prevented by avoiding marriage between the carriers. Couples who already have an affected child in the family should have the mother screened during early pregnancy to assess the baby's chances of having the disorder, he advised.
At AKUH, Bone Marrow Transplantation in Thalassaemia is being carried out successfully. All the children transplanted so far have been cured from a potentially fatal disorder.
Approximately 75 percent to 80 percent sufferers of aplastic anaemia survive after bone marrow transplantation treatment, Dr Mohammad Usman Sheikh, Consultant Haematologist, Oncologist and Assistant Professor, AKU informed the audience.
Aplastic anaemia is defined as pancytopenia with empty bone marrow. The cause of acquired aplastic anaemia is largely unknown. Without treatment, it is a fatal disease with a mortality rate of 80 percent in one year. Two main treatment options are available and that includes Immunosuppresion and allogeneic bone marrow transplantation.
Allogeneic bone marrow transplantation is the curative treatment option and should be offered to all patients younger than 40 years. "Taking into consideration the high relapse rate and poor response with immunosuppresive therapy, bone marrow transplantation should be the treatment of choice in young patients with severe aplastic anaemia, Dr Sheikh stressed.
Aplastic anaemia is not an uncommon disorder in our country. Fortunately, the facility of bone marrow transplantation is available and further more due to large family sizes compared to West; likelihood of finding an HLA matched donor for transplant is high, he said.