Things to do before labelling a patient with haemoglobinpathy

At the time of patient enrollment, we doctors collect history and the diagnosis report to confirm haemoglobinpathy. But few of them would have misplaced the report or would not have collected their reports from the previous hospitals which they had visited. Under these circumstances, what are the next steps? Dr. Reshma Srinivas shares her experience with patients at Samraksha, and explores more on this topic. What is haemoglobinopathy? Haemoglobinopathies are diverse group of inherited blood disorders that result from variations in structure or synthesis of haemoglobin. Haemoglobinopathy is a hereditary condition involving an abnormality in the structure of haemoglobin. How vital is diagnosis? There are various kinds of haemoglobinopathies. Each of these can be treated in different ways. Blood transfusion is not the only treatment for all haemoglobinopathies. For example a patient with sickle cell anaemia or sickle beta thalassemia should not be transfused blood as regularly as in thalassemia. The first and foremost step to take for patients with sickle cell anaemia or sickle beta thalassemia is to start hydroxyurea, and monitor them on a weekly basis. Also immunize and educate the families about the disease and what to watch out for any complications. Do not transfuse blood them until haemoglobin level in the patient’s blood falls to 6g/dl. Can we diagnose a patient who has already taken blood transfusion? In order to diagnose haemoglobinopathy, the first blood sample is extremely precious. Therefore before transfusing, blood samples should be collected and sent for panel of tests that determine whether the patient is suffering from hemoglobinopathy. If the patient has already been transfused, the only option left is to diagnose. The patient should be made to stay transfusion free for three months time frame, but that would not be possible if the patient is dependant on transfusions. Hence, in such cases, we collect samples of parents to check if they are carriers. A simple request for haemoglobin electrophoresis generally does the trick. What are the hurdles faced during diagnosis? If both parents are carriers, then the diagnosis will get confirmed. If only one parent is a carrier and the other parent is normal, then it is better to get molecular workup for mutated gene causing haemoglobinopathy done. Here the question of affordability arises among poor patients. For example, nearly 400 mutations have found to cause beta thalassemia. But most of the genetic labs cover only few mutations which occur more frequently in the population. What if the patient is been transfused blood without established diagnosis? If haemoglobinopathy is beta thalassemia, then the treatment is absolutely right! But if we are transfusing blood to patients who are not suffering from beta thalassemia, then we are paving way for complications instead of treating haemoglobinopathy. Hence, before transfusing, a patient who comes with low haemoglobin should be sent for panel of tests if he/she is suspected of haemoglobinopathy with pretransfusion blood samples.