World Thalassemia Day is observed on May 8th across the globe. It is an annual commemoration day dedicated to all thalassemic patients and parents who have never lost hope for life and to all implicated scientists who have never given up and who, with their efforts and persistency, have given this hope, for a long, good quality life, to the thalassemic patients.
Thalassemia is an autosomal recessive blood disorder which is characterised by abnormal formation of haemoglobin in the body. It causes weakening and destruction of the red blood cells, affects the formation of haemoglobin in the body, and causes mild or severe anaemia.
Also, it leads to other complications like bone deformities, iron overload, cardiovascular diseases, heart palpitations, enlarged bones of cheeks or forehead, enlarged liver, jaundice, enlarged spleen, delayed puberty, etc.
Genetic mutation or deletion of some key gene fragments can lead to thalassemia and some of the common symptoms are bone deformities in several areas, yellow or pale skin, dark urine, delayed growth and development, excessive tiredness or fatigue.
However, everyone doesn't have these visible symptoms, some symptoms of thalassemia may develop only during the later stages of childhood or adolescence.
Thalassemia is inherited from parents, and you may develop thalassemia minor if anyone of your parents is a carrier of the disease. And if both parents are carriers of thalassemia, then the child is more prone to inheriting a more serious form of thalassemia.
Mild thalassemia sometimes does not show any symptoms and thus can be undiagnosed until blood test (complete blood count, CBC test). Mild thalassemia can be treated through the blood transfusion, B group vitamin supplements, iron chelation therapy and blood and bone marrow stem cell transplantation to maintain the normal level of haemoglobin and healthy RBCs (red blood cells).
The symptoms of each type of thalassemia is different in terms of their kind and severity.
Beta thalassemia occurs when the body cannot produce enough beta-globin. This kind of thalassemia has two subtypes, which are thalassemia major and thalassemia intermedia. Thalassemia major is considered more severe than thalassemia intermedia. Thalassemia major can be life-threatening with symptoms like fussiness, frequent infections, poor appetite, jaundice and enlarged organs. Regular blood transfusions is required for thalassemia major patients.
On the other hand, thalassemia intermedia is less severe and develops when there is an alteration in the beta-globin genes. Thalassemia intermedia patients do not require regular blood transfusions.
Alpha thalassemia is characterised by the body not making enough alpha-globin. The subtypes of alpha thalassemia include haemoglobin H and hydrops fetails. Haemoglobin H causes overgrowth of cheeks, forehead and jaw, enlarged spleen, malnourishment and jaundice. Hydrops fetails is a severe kind of thalassemia, which occurs before birth that results in stillborns and death shortly after birth.
Thalassemia minor patients do not have much symptoms, other than minor anaemia.
Thalassemia affects reproductive organ development during pregnancy and women with thalassemia may suffer from fertility problems too. Risk factors during pregnancy include risks of infections, hypothyroidism, gestational diabetes, heart problems, more number of blood transfusions and low bone density.
A blood test is done to diagnose thalassemia by testing a blood sample for anaemia or abnormal levels of haemoglobin. Further, diagnosis might be done depending on the type of thalassemia and its severity.
The thalassemia treatment is going to depend on the type of thalassemia and its severity. Blood transfusion, bone marrow transplant, iron chelation (removal of excess iron from the body with special drugs) are some of the treatments.
You can't prevent thalassemia, as it's an inherited blood disorder. However, it can be managed along with vaccines for hepatitis. You have to take a proper diet and exercise regularly. Thalassemia patients are required to eat low-fat, and plant-based diet. Iron foods should be consumed in limited amounts in case iron levels are high in your blood. Moderate intensity exercises is recommended for people with thalassemia.