Thalassemia – Definition, Symptoms & Diagnosis. Can it be Cured Permanently?
Thalassemia is a genetically inherited medical condition which involves making an abnormal type of hemoglobin cells. It is one of the common illness treated in hospitals in Kolkata. The hemoglobin is the protein component in the blood that carries the oxygen. With time this condition further develops into anemia. It is another complicated condition, in which the individual does, not have an adequate amount of blood, namely the red blood cells in their body.
Thalassemia being inherited makes either of the parent, the carrier of the same. There are several types of the same, however, the two types- alpha and beta thalassemia. In the prior type, at last, one alpha goblin gene possesses a mutation. While in the later one, the beta goblin genes are responsible.
Symptoms of Thalassemia
Though the symptoms may vary greatly from type to type and as per the overall condition of the individual, some of the common ones for the same are as follows-
- Pale skin color including the occurrence of jaundice
- Dark urine, indicating the breakdown cells
- Bone deformities particularly in the face
- Poor appetite
- Delayed growth and puberty
- Enlarged heart, liver
Diagnosing the disease is a very important tool to proceed towards a healthy treatment. It usually involves collection blood sample and screening them for the presence of anemia. The screening will also involve looking the blood cells under a microscope to see if the shape of red blood cells. The presence of abnormally shaped red blood cells is usually an affirmative sign of thalassemia. In order to investigate the type, the hemoglobin electrophoresis is carried out, which involves separating the different component molecules of blood and studying the exact abnormality type.
The occurrence of thalassemia is more prevalent among the people of Greek, Italian, South Asian, Middle Eastern and African descent.
The treatment procedure entirely depends on the severity and type of the thalassemia. Some of the mostly executed treatment procedures include
- Bone marrow transplant
- Blood transfusion
- Medicines and supplements to suppress the effects
- In case, the disease gets to an advanced stage and becomes complicated the doctor might even suggest surgical removal of gallbladder and spleen
The doctor recommends iron supplements and chelation for some period of time, after a blood transfusion. With proper and timely medication one can live a significantly healthy life. However, this means leading an extremely cautious life.