Thalassemia involves the production of abnormal amounts of haemoglobin in the body.
With International Thalassemia Day is being observed across the world on Sunday to raise awareness, here are certain things you’d like to know about it.
Thalassemia, a blood disorder that originated in the Mediterranean region, involves the production of abnormal amounts of haemoglobin in the body. Also called the Mediterranean anemia, this disorder is known to be most widespread in African, Mediterranean and Asian countries.
Dr. Mandeep Singh, Sr. Consultant, Fortis Escorts Bone and Spine Institute, said, “Thalassemia is a blood disorder, which is an inherited autosomal disorder where abnormal hemoglobin is formed in the body. This is due to a variant or the missing gene that determines how the body makes hemoglobin. The result is improper transport of oxygen in the body and destruction of red blood cells. People suffering from thalassemia have less hemoglobin and fewer red blood cells which translate into anemia or anemic conditions.”
Thalassemia is known to cause complications like iron overload in the body, bone deformities and cardiovascular illnesses.
Research showed that this disease had resulted in 25,000 deaths in 2013.
Dr. Singh added, “Presented as anemia, thalassemia is a condition that requires repeated blood transfusion. Combination of repeated blood transfusion and chelation therapy has dramatically increased the life expectancy of thalassemic patients. On the other hand repeated blood transfusion leads to iron overload.”
Leads to frequent endocrine changes:
Skull: classic ‘hair-on-end’ appearance
Facial bones: rodent facies
Ribs: ‘rib-within-a-rib’ appearance
Premature fusion of the growth plate
High prevalence of osteoporosis and osteopenia is seen in these patients. BMD (bone mineral density) is done to assess the severity of osteoporosis. Zinc and vitamin d deficiency is reported frequently in these patients.
He further informed, “Bone mass is reduced in children. Peak bone mass is suboptimal in adults. Fracture is common in these patients. Bone pain is more common in females. Treatment usually aims at improving BMD, by the use of calcium, vitamin D and gonadal steroid replacement therapy.”