Treating Thalassemia
Your three month old daughter is always fatigued. She has yellowish skin and experiences weakness. She could have thalassemia.
Thalassemia is caused by an inherited mutation in the globin gene of blood hemoglobin, the protein within red blood cells that the body needs to carry oxygen. The disorder leads to anemia and other conditions, such as bone abnormalities and growth deficiencies.
Thalassemia is a worldwide challenge and is prevalent in the Middle East and North Africa region. Currently there has been a campaign in these countries to seek testing prior to marriage for this disease. One in eight thalassemia patients live in India.
People who have thalassemia have fewer healthy red blood cells and less hemoglobin than normal in their blood. Normal human hemoglobins contain four protein chains composed of two pairs of globin chains, each of which contains one a-globin and one b-globin chain. The synthesis of the alpha and the beta chains is balanced under normal. Thalassemias are classified according to which chain of the hemoglobin molecule is affected. In Alpha-thalassemia production of the a-globin chain is affected, while in Beta-thalassemia production of the b-globin is affected.
People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. Beta-thalassemia can be caused by homozygous or compound heterozygous mutations in the HBB gene and Alpha-thalassemia is caused by mutations in the HBA1 and HBA2 genes.
To confirm diagnosis of thalassemia, laboratory testing is essential. Laboratory evaluation for thalassemia can vary from routine blood tests like complete blood count, iron studies, and hemoglobin analysis to more advanced and precise tests, including genetic testing.
Prenatal screening and genetic counselling are essential in preventing the most severe forms of thalassemia. If both parents are carriers, there is a 25 percent chance of their children carrying the faulty gene. Hence, it is crucial to undergo genetic testing for beta-thalassemia to avoid serious consequences in newborn children. Through prenatal diagnosis, one can find out whether the child to be born will be affected by disease or be a carrier by detecting the mutations of both parents in the fetal tissue. Newborn screening also helps detection of abnormal hemoglobin variants in both carriers as well as those with the disease. However, thalassemia major is difficult to detect by newborn screening and can be tested hematologically mostly after 3-6 months of age.
Thalassemia patients require regular blood transfusions to maintain their hemoglobin levels and prevent serious growth retardation and organ damage, followed by iron chelation therapy to remove the excessive iron overload because of the multiple blood transfusions. Therefore, the quality of blood is of critical importance as unsafe blood can lead to transfusion-transmitted infections (TTIs) which can be fatal.
Despite the number of thalassemia cases in certain countries, access to systemic and safe blood transfusion is still a challenge. It is mandatory to screen all collected blood units for HBV (Hepatitis B), HIV, HCV (Hepatitis C), syphilis and malaria by serological tests. However, despite these mandatory tests, those receiving blood are still at risk of contracting TTIs due to the window period for certain infections, where the screening test can be falsely negative, and the constant development of new variants that evade screening. Nucleic Acid Test (NAT) enhances the safety of blood units by effectively detecting transfusion-transmitted diseases. NAT is considered the gold standard in blood safety screening and significantly reduces TTIs related to Hepatitis B and C and HIV.
In order to effectively manage thalassemia, you need a multipronged approach that includes awareness programmes, accelerated screening, pre-marital counselling, genetic counselling and prenatal diagnosis. While this approach may minimize new cases, better diagnostic facilities for early detection of existing cases, providing adequate and safe blood (including NAT screened) and promoting research in newer intervention such as gene therapy is also required for adequate management of thalassemia.
