WHO has estimated that 4.5% of the world's population is affected by Thalassemia. In India, there are nearly 1.25 lakh children with thalassemia major and every year nearly 12,000 are born every year. The following medical therapies are available for thalassemia patients.
Blood Transfusion Therapy: It should be initiated as soon as diagnosis is established and if the haemoglobin levels are below 7 gm /dl on at least two occasions. Regular blood transfusion at 2-4 weekly intervals is essential to maintain Hemoglobin > 10 gm/dl. Blood transfusion therapy will continue for life long.
Chelation Therapy: Chelation therapy should be initiated when S. ferritin is > 1000 ng/ml or child has received 15-20 units of transfusion. Adequate dose of chelation is essential to maintain S. Ferritin around 1000 ng/ml.
Combination Therapy: Children who have high levels of serum ferritin or have cardiac, liver & endocrine dysfunction should be treated with combination therapy. At present, there are three chelating drugs are available. Such children are given two drugs are given in combination under the supervision of Hematologist or doctors who trained for treatment of Thalassemia.
Bone Marrow Transplant: This offers permanent cure. The principles of bone marrow transplantation include:
(a) Destroy & prevent regeneration of defective stem cells.
(b) Sufficient immune suppression for good engraftment.
(c) Infuse complete HlA match hematopoietic stem cells.
(d) Prevent GVHD with combination of immuno suppression.
(e) Children after bone marrow transplant are kept in a Hepa filter room to prevent infection.
Endocrine problems: The patients often develop various endocrine problems such as hypo-thyroid, diabetes and growth retardation. The efforts are made to prevent the development of endocrine problems by adequate blood transfusion and chelation therapy. In addition, these patients are monitored for early detection of endocrine problems and management.
Causes & Symptoms: Thalassemia minor which is a heterozygous state in which individuals are either asymptomatic or have mild anaemia which worsens during stress. They do not require any treatment. These individual can develop anemia as in general population. Anemia may worsen if they develop iron deficiency anemia or anemia due to other causes.
Thalassemia major is a homozygous state where severe anemia develops during infancy. Children are irritable, have poor development, may have jaundice along with hepatosplenomegaly. These children require regular blood transfusions.
Thalassemia intermedia or non-transfusion dependant thalassemia (NTDT). These children develop anemia after 3-4 years of age, jaundice, poor growth development, abnormal faces, hepatosplenomegaly.
Thalassemia Major: It is a serious inherited blood disorder in which red cell survival is greatly reduced due to imbalance between a & ß chains. The cause for anemia is (ii) increased hemolysis (iii) ineffective erythropoiesis & (iv) extramedullary hematopoiesis. Infants are normal at birth & develop anemia between 3-18 months of age which is progressive and does not respond to any hematinic therapy. They are irritable and have poor development. They develop prominence of frontal, facial bones and hepatosplenomegaly. They are at a higher risk of developing recurrent infections due to decreased immunity. Iron absorption increases but the main source of iron overload is from blood transfusions. This iron gets deposited in skin, liver, heart & endocrine glands and reduces their functions.
Anaemic conundrum : Anemia often presents at an early stage. This is often confused as iron deficiency anemia and most of the patient/children are treated with iron therapy before they are diagnosed to have thalassemia major with anemia.
Diagnosis
Diagnosis is based upon CBC, Haemoglobin electrophoresis which shows raised fetal hemoglobin levels. The diagnosis can be further confirmed by family studies and identifying the underlying mutation defects by DNA studies.
(The writer is Sr. Consultant, Hematology Fortis Escorts Hospital, Faridabad)