The Mediterranean anaemia or thalassaemia, a group of blood disorders originated in the Mediterranean region, happens when your body makes an abnormal production of the oxygen-carrying protein inside red blood cells - haemoglobin. This genetic disease is inherited from parents to children if at least one of your parents is a carrier of thalassaemia or due to a missing gene called 'autosomal recessive' which determines how body makes haemoglobin. So, deficiency of haemoglobin affects oxygen supply, destructs red blood cells excessively and results in anaemic condition which can be fatal too.
To spread the awareness about this deadly disease among people, to commemorate the thalassaemia patients who lost their lives and to provide the live thalassaemia patients a better quality of life, the 8th of May comes up with a special day “World Thalassaemia Day” every year. On this World Thalassaemia 2019, we are here to share a few important things that surrounded thalassaemia.
Three Types Of Thalassaemia And Subtypes
1. Alpha Thalassaemia
Haemoglobin H - Leads to bone deformities, jaundice and an extremely enlarged spleen
Hydrops Fetalis - Severe form of alpha thalassaemia that occurs before birth of the child
2. Beta Thalassaemia
Thalassaemia Major - Most severe form of beta thalassaemia and it requires regular blood transfusions
Thalassaemia Intermedia - Don't need blood transfusion as it is less severe form of beta thalassaemia
3. Thalassaemia Minor
Patients don't have any symptoms which can make thalassaemia minor hard to detect in this case. But, if they do, the condition is treated as either alpha or beta thalassaemia. The only choice to detect the disease is getting tested only if one of your parents or a relative has the disease.
Complications And Symptoms
Symptoms and severity of all the types and subtypes vary and even the onset may also vary a little. But, we list you here the most common complications and symptoms.
Iron overload in the body
Bone deformities - facial bones: rodent facies, ribs: ribs-within-a-rib appearance
Hair-on-end appearance in skull X-ray
Diabetes Mellitus (DM)
Hypogonadism - Occurs when sex glands produce little or no sex hormones
Hypothyroidism - Occurs when thyroid gland failure to produce enough hormones
Hypoparathyroidism - Occurs when the function of the parathyroid glands decreased
Short stature - delayed growth and development
Osteoporosis - A condition in which bones become weak and brittle
Osteopenia - Early signs of bone loss that can develop into osteoporosis
Yellow or pale skin
Extreme fatigue or tiredness
Your blood sample will be sent to be tested for anaemia and abnormal haemoglobin. The shape of red blood cells is observed for their shape under a microscope as an abnormal shaped red blood cells are a sign of thalassaemia. Through the test 'haemoglobin electrophoresis', the abnormal type of thalassaemia will be identified. After all going through the type and severity of thalassaemia, you will be physically examined for any bone deformities.
After finding the type and severity of the thalassaemia, doctors suggest the patient for the required treatment which suits him/her best. But, the most common treatment for thalassaemia includes
Thalassaemia requires blood transfusion in addition to chelation therapy (chelating agents to remove heavy metals from body) which are proved to be better to increase the life expectancy of patients
Patients are advised to not take pills that contain iron if you need blood transfusions in which you'll receive extra iron that your body can't easily get rid of
Bone marrow transplantation
Medication and supplements
Patients who lead their life with mild or minor form of thalassaemia can mostly live their life normally. Since thalassaemia is a genetic disorder, we can't prevent it but can manage it to avoid complications in future. Having plant-based and low-fat diet daily, avoiding highly iron-rich foods (fish, meat, etc.), indulging in moderate-intensity exercises, timely medication and doctors advise will definitely let you lead your life healthily and happily.
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