Thalassemia: Definition: Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.
Types:o There are two main types of thalassemia:o Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).o Beta thalassemia occurs when similar gene defects affect production of the beta globins protein.Both alpha and beta thalassemia include the following two forms:o Thalassemia majoro Thalassemia minor
Treatment & Management:o Screeningo Blood transfusion therapyo Iron chelation therapy.o Bone Marrow Transplantation
Screening:The criteria for screening program can be summarized as following:• Serious recessive disorder• Intervention available and impacts outcome• High frequency of carriers expected• Availability of inexpensive, reliable test• high detection rate• low false positive rate• Access to genetic counseling• Voluntary participation
Blood Transfusions:• Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias.• This treatment gives you healthy red blood cells with normal hemoglobin.• Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a supply of healthy red blood cells.
Blood and Marrow Stem Cell Transplant: • A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). • Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells.
Iron chelation:• Because the hemoglobin in red blood cells is an iron- rich protein, regular blood transfusions can lead to a buildup of iron in the blood.• This condition is called iron overload. It damages the liver, heart, and other parts of the body.• To prevent this damage, iron chelation therapy is needed to remove excess iron from the body.
oIron Chelation Drugs:There are currently three iron chelation drugs available.1) Deferoxamine (Desferal).2) Deferiprone. (L1, Ferriprox, Kelfer).3) Deferasirox. (Exjade, Asunra, Desirox).
oAsunra :• Asunra is indicated for the treatment of Chronic Iron Overload due to blood transfusions in adult and paediatric patients(aged 2 years and over).o DOSAGE:• Each dispersible tablet contains 100mg and 400 mg Deferasirox as active substance.• The recommended initial daily dose of ASUNRA is 20 mg/kg body weight .
oSide affects:Deferasirox may cause side effects• stomach pain• nausea• vomiting• diarrheaSome side effects can be serious.• hearing loss• vision problems• hives• rash• blisters• itching• difficulty breathing or swallowing• swelling of the face, throat, tongue, lips, eyes, hands, feet, ankles, or lower legs• hoarseness
Pakistan and thalassemia:• In Pakistan almost 9 million people are suffering from thalassemia• Though several thalassemia centers and societies are working still awareness is needed.• Specially in rural areas , awareness programs should be arranged with the help of media