Transmitting Thalassemia by parents carrying thalassemia genes to their children is a horror for such parents. Thalassemia is a genetic blood disorder and is characterized by the abnormal production of hemoglobin in the blood. The blood test can determine the severity of the same. Accordingly, the most effective treatment is sought from the reliable hospitals.
On this 8th May 2018, as we observe World Thalassemia Day, we on behalf of ILS Hospitals, spread awareness regarding its treatment options. But at the onset, we need to understand what are the various kinds of thalassemia patients and how are various treatment done to manage the same. Thalassemia minor are the individuals who are simply carrying the genes of the same, without any major impact on their own life. Whereas Thalassemia major are the individuals who are carrying the genes having a high risk of severe impact.
Thalassemia minor does not require any strict supervision or treatment post its primary evaluation. Thalassemia major with alpha and beta thalassemia must be warned regarding their respective conditions and best possible treatment options. They should also be aware of the closely related conditions such as iron deficiency and anemia so as to avoid misdiagnosis.
The most prevalent treatment options for thalassemia major includes a routine blood transfusion. It usually helps to prolong the life. The frequency varies as per the severity of the case, narrowing down to a couple of weeks for some cases. However, many a time, this frequent transfusion might result in the excess iron build up in few organs such as liver, heart etc.
As already mentioned multiple blood transfusions is a widely availed treatment for thalassemia, it often leads to an excess iron build-up in the body. To negate its ill-effects, routine medication is needed. This is usually done as chelation therapy, shots/oral medication of deferoxamine, deferiprone, or deferasirox. There are few side effects associated with each one whose severity varies from person to person.
Bone marrow transplant
As the marrow plays a crucial role in the overall composition of the blood. For very young thalassemia patients, a bone marrow transplant from a suitable donor can prove to be somewhat of a permanent cure for thalassemia, the success rate has been found as high as 80% to 90%.
Therefore, it is recommended for every thalassemia patient and their family to take note of the severity of the same and avail treatment accordingly.
Blood transfusing is often a very common solution to treat several side effect of any illness or as a compensation for blood loss from a treatment or surgery. But there are several illnesses that originate in the blood itself. Several hospital offer screening and treatment of the same. Haematology is the umbrella term for the branch that deals with diagnosis, prevention, treatment and care of diseases related to blood. The term is originated from Greek words ‘haima’ implying blood, and ‘logy’ implying to study.
These diseases can originate or affect any of the blood components such as blood cells, bone marrow, blood protein, blood vessels, platelets, coagulation, and spleen. Let’s understand what are the components of blood is and medical conditions surface under each of the components
The main components of blood as are as follows:
- RBC or Red Blood Cells – it carries oxygen to tissues
- WBC or White Blood Cells – it fights infections
- Platelets – it helps in blood clotting
- Plasma – it reserves protein and performs several other functions
Blood diseases that affect RBC are:
a. Anaemia – the body has a low level of RBC
b. Pernicious Anaemia (B12 deficiency) – prohibits the body to absorb B12 from the diet.
c. Aplastic anaemia – the body does not produce adequate blood cells, mainly RBC
d. Autoimmune haemolytic anaemia – the body’s overactive immune system destroys its own RBC
e. Sickle cell anaemia – a genetic disease that makes the blood cell crumple into sickle shape
f. Polycythaemia Vera – the body produces too many blood cells that may cause blood clot
g. Malaria – an infection triggered by a parasite that enters the bloodstream through a vector (mosquito’s bite) that makes RBC burst.
h. Thalassemia – a genetic disease with features of severe anaemia, that often need a regular blood transfusion to survive.
Click here to learn more about Thalassemia.
Blood diseases that affect WBC are:
a. Lymphoma – a type of malignant blood cancer originating in the lymph system.
b. Leukaemia – another type of blood cancer originating in WBC.
c. Multiple myelomas – yet another type of blood cancer which affects the white blood plasma.
d. Myelodysplastic syndrome – a group of blood cancer that affects the bone marrow.
Blood diseases that affect platelets are:
a. Thrombocytopenia – the presence of low level of platelets in blood
b. Idiopathic thrombocytopenic purpura – onset of the above illness due to unknown cause
c. Heparin-induced thrombocytopenia – onset of the above illness due to the reaction against heparin
d. Thrombotic thrombocytopenic purpura – a low platelet count due to the blood clot in blood vessels
e. Essential thrombocytosis (primary thrombocythemia) – the body produces excessive platelets causing a clot and/or bleeding.
Blood diseases that affect plasma are:
a. Haemophilia – a genetically inducing protein deficiency that causes severe blood clot
b. Von Will brand disease – a form of haemophilia that might result in the excessive blood due to an injury or surgery
c. Hypercoagulable state (hypercoagulable state) – a condition that often results in blood clot and needs blood thinner on a regular basis
Deep venous thrombosis – having a blood clot in the deep vein of the leg that can even travel to lung or heart.
Disseminated intravascular coagulation (DIC) – a condition that causes multiple tiny clots throughout the body, simultaneously.
Most of these illnesses can be treated effectively if diagnosed on time.
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.