Thalassemia Treatment in India| BMT

Thalassemia is a genetic disorder which affects the hemoglobin in a patient. The conservative treatment consists of recurrent blood transfusions.These recurrent blood transfusion may cause iron overload in the patient and subsequently bone deformity,liver damage and other health complications follow. Bone marrow transplant is considered a viable treatment option for pediatrics thalassemic patients.At CMCS Health, we offer Child Thalassemia treatment In India | BMT in India ,with the best specialist Indian medical doctors at well equipped and well managed treatment centers and hospitals at an affordable and reasonable cost with very good success rates.

What is Thalassemia?

Thalassemia is a medical condition in which the affected person's body produces abnormal hemoglobin. This abnormal hemoglobin gets the excessive and premature destruction of RBCs subsequently causing anemia in the affected person. A person with thalassemia may require frequent blood transfusions depending upon type and severity. We offer comprehensive thalassemia treatment in India | BMT .

What are the causes of Thalassemia?

Thalassemia is a mutation in genes responsible for hemoglobin production. It is a genetic or hereditary disorder, which means the disease is passed on to the patient by the parents who are the carrier of the disorder.

What are the Types of Thalassemia?

Thalassemia can be broadly classified as Alpha and Beta Thalassemia. There are many subtypes of Thalassemia.

Understanding Thalassemia:

Hemoglobin molecules are made up of Alpha and Beta parts. Both Alpha and Beta parts are prone to genetic mutations.

Alpha Thalassemia :

Alpha Thalassemia is more common among the south east Asians , south china,India, Africa and middle eastern countries.

Four Genes are involved in formation of Alpha Hemoglobin chain. A child will acquire two each from both father and mother.

One mutated gene either from father or mother out of the four genes,causes either no symptoms or mild symptoms in child,the child will grow as healthy human being but will be called a silent carrier of Alpha Thalassemia.

Two mutated genes either from father or mother,the symptoms will be mild in child, such a thalassemia is called Alpha thalassemia minor.

Three mutated genes will cause moderate to severe anemia in child. The child will have chronic anemia and will require regular blood transfusions throughout his/her life.This medical condition is also referred as Hemoglobin H disease.

Mutation in all four genes is called Alpha Thalassemia major or Bart hydrops fetalis. Fetuses with mutations in all four genes do not survive or die shortly after birth. Blood transfusion given to fetus with four gene mutations rarely works and have very low success rates.

Beta Thalassemia:

Beta Thalassemia is more common among the people of Mediterranean region. The prevalence is high in North Africa and west asia. Substantial population in Maldives and certain islands in Indian ocean are the careers.

Two genes one each from the father and mother constitutes Beta hemoglobin chain.

One gene mutation causes mild symptoms and are referred as Beta Thalassemia minor.

If both the genes have mutation, the signs and symptoms may vary from moderate to severe.The affected condition is called Cooley's Anemia or Beta Thalassemia Major. Babies born with mutations in both genes are usually born as healthy child but develops complications of thalassemia within two years of birth.Another form of Beta Thalassemia with both genes mutation but with milder symptoms is called Beta Thalassemia Intermedia.

What are signs and symptoms of Thalassemia?

The signs and symptoms of thalassemia depends on it's type.

Signs and Symptoms of Alpha-Thalassemia:

Majority of children with Alpha-Thalassemia or Hemoglobin-H disease are healthy in general.Symptoms may vary from mild to moderate anemia,Fatigue,drowsiness,pale skin or jaundice,abnormally cold hand and feet ,chest pain,frequent headaches,shortness of breath, dizziness and feeling of impending being faint.enlarged spleen and possibly soft to touch and enlarged liver,they may also have deformity of bones,forehead,cheeks ans jaw may overgrow.

Signs and Symptoms of Beta Thalassemia:

Signs and symptoms of Beta Thalassemia ( thalassemia major or Cooley's anemia ) is generally severe and patient may require regular blood transfusions, the symptoms may include jaundice, frequent infections,cold hand and feet,shortness of breath,a general feeling of malice and being tired,poor appetite,skeletal deformity,delayed growth and delayed puberty,iron overload in body that can harm spleen,heart and liver.

How Thalassemia is diagnosed

Different diagnostics tests are recommended by treating doctor,if he/she suspects the patient to have Thalassemia.

• Complete Blood Count ( CBC) is recommended for hemoglobin levels,as thalassemia patients usually have lower hemoglobin.
• Microscopic examination: is conducted to ascertain any abnormality in RBCs,Thalassemia patients RBCs are smaller in size as compared to an unaffected person.RBCs with uneven hemoglobin distribution,that gives Bull's eye appearance under the microscope.
• A reticulocyte Count is done to ascertain how fast RBCs are formed by the bone marrow and released in blood.
• Hemoglobin electrophoresis separates different molecules in RBCs,allowing identification of abnormal RBCs.
• DNA Analysis  is done to diagnose thalassemia or to ascertain if the person is carrier of mutated hemoglobin gene cells.
• Iron tests in blood  are done to ascertain if the patient's anemia is because of thalassemia or iron deficiency,as thalassemic patient's do not have Iron deficiency.
• Physical examination is conducted to ascertain enlarged spleen.
  

  Thalassemia Treatment in India|BMT

Treatment for moderate to severe thalassemia may involve frequent blood transfusions.Frequent blood transfusions may cause iron overload in patient's body which in longer run may damage spleen,heart and liver.

Iron Chelation is removal of excess iron from the blood. Patients may be prescribed subcutaneous injections of deferoxamine or oral deferasirox.

Bone Marrow or Stem Cell transplant is a better treatment option for Thalassemia. Chemotherapy cycles given to the patient prior to BMT for destroying abnormal cells and once the patient is in remission phase,bone marrow from a compatible donor preferably a sibling is transplanted in thalassemia patients.

Surgery is also done for some patient with bone deformity and sometimes surgery  removal of spleen and gall bladder is also done.

Dr Vikas Dua is consultant Pediatrics bone marrow transplant specialist at Fortis Memorial Research Institute Gurgaon,India.

Dr Vikas Dua did his advanced Fellowship in Pediatrics Bone Marrow Transplant from National University Hospital Singapore and also did his training in child BMT from world's No.1 institute in pead.BMT ,St. Jude's Children research Hospital Memphis,USA.