Types Of Thalassemia

Alpha Thalassemia
The alpha thalassemia is caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemia can be generally categorized as:

Silent Carrier Alpha Thalassemia Trait Hemoglobin H disease Hemoglobin H-Constant Spring Alpha Thalassemia major

Alpha Thalassemia trait in a parent is often dicovered after the birth of an effective child.

Beta Thalassemia

Minor/carrier/trait : They appear perfectly healthy, however where two carriers decide a family there is one in four chance that their child could inherit their carrier genes and develop BetaThalassemia Major, one in four of a child being normal and 50% chance of the child also being a carrier. Thalassemia Intermedia : A clinical expression for a condition between Carrier and Major .They often run a hemoglobin of 7-9 g/dl. They need transfusions only at times as their Hb drops with infection or any stress on the body. Especially during pregnancy or leg ulcers(seen with chronic hemolytic anemias ). Thalassemia Major : This condition requires intensive medical care,including 2-3 weekly transfusions and desferrioxamine injections, infused daily,for 8-12 hours at home. Associated with chronic diseases such as diabetes, growth and puberty failure and early menopause and blood transfusion complications such as hepatitis C, hepatitis B and HIV infections. The treatment and management is a financial and psychological burden on the patient and family.

Thalassemia is a genetic disease. This means that :

Testing For Thalassemia
A SIMPLE Blood Test called Hb ELECTOPHORESIS / Hb A2 will tell you whether you are a carrier or have a trait ofthalassemia minor.

During Pregnancy there are three ways to test the foetus for thalassemia status :

CVS - Chorionic Villius Sampling (done in 8-10 weeks of pregnancy) Amnicentesis - done in 14-18 weeks of pregnancy Fetal blood Testing : Fetal blood from the umbilical cord of the foetus in the womb (done in 18-20 weeks of pregnancy) Safety and Accuracy : CVS and Foetal Blood Sampling has a reported miscarriage rate of 1 in 100 tests and Amniocentesis 1 in 200.

Foetal blood Testing : Foetal blood from the umbilical cord of the foetus in the womb (done in 18-20 weeks of pregnancy)

Hema Chandra Case:

Personal Details:

As per records name:  Shiva Kishore

Current Name: Hema Chandra

Date of Birth: 26/05/2012

Blood Group: A+

Parents Name: Ramesh and Asha

Parents Blood Group: Ramesh(B+) Asha(AB+)

Occupation: Ramesh auto driver and Asha house wife.

Monthly Income: 4000

Property: They have a own home in tirthala

Siblings: Rmesh have 3 brother and Asha had 2 brothers.

History:

As per  Ramesh there is no one in the family suffering from this kind of disease.

At the age of 4 months(September 2012) baby suffered from severe cold and  pain leading to swelling in the stomach. They consulted doctor and doctor examined and gave tablets for free motion and then the pain reduced and the baby is normal .later parents realized that there are small lymph’s around the stomach. They consulted Dr Pradeep Kumar of ‘kurapati children hospital’  in khammam and the doctor examined the baby made few tests  and suspected it could be thalassemia.

Doctor suggested it would be helpful if they recheck the baby in Hyderabad(November 2012), and referred the case to ‘Mahaveer Hospital’. Doctors here repeated the same tests again and addition to it they performed some bone test out which they declared it is thalassemia. Parents asked for solution but the doctors over there asked them to go back to khammam and check with their doctor.

Dr Pradeep Kumar suggested to change blood every month which can sustain the baby for a long time. And he also suggested there is no proper treatment or medicine yet discovered.

So they started blood transfusion for the baby from Nov 2012. First blood transfusion done in Mahaveer Hospital Hyderabad.

Second Blood transfusion in  SRI RAKSHA CHILDRENS HOPSITAL PALVANCHA on 06/12/2012. They spent 7000 for this and they arranged donors to

Third Blood tansfusion in THALASSEMIA AND SICKLE CELL SOCIETY HYDERABAD on 28/12/2012 they felt that they don’t have good response here. Here this society charged 100 from them.

Fourth Blood transfusion is in GOVT HOPSITAL KAHAMMAM on 17/01/2013 .

Fifth Blood transfusion is in THALASSEMIA AND SICKLE CELL SOCIETY HYDERABAD on 01/02/2012.

On an average every 15 days baby is given new blood.

Current Medication:

Baby is given FLOW VITA(FOLIC ACID ) half tablet daily. Reason said by doctor is to reduce IRON content.

Parents Opinion:

Parents are advised by few people that there is treatment for this case and it can cured by operation.so they are waiting for donors who can donate for the operation. They are no convincible as they need their kid back healthy. They save d 3 lakhs and through donations they received almost 60,000 now.

Hidden facts:

There is no treatment for this case. But there is a possible survival rate in case of operation.

But the facts around the operation are :

Success rate of the operation is just 5%

Operation costs nearly 20 lakhs and post operation it would be around 10 lakhs

For an operation first we need to check the  match in HLA criteria.(IT WOULD BE APPRORIATE IF THE DONOR IS A SIBLING) And once there is a match then for 6 months baby HB should be maintained 9.5-10g and  there should be spleen check frequently. If everything goes well for 6 months then the case will be considered for operation.

But after operation baby should be treated like glass for 10 months as there is high possibility of infection.

My Observations:

There are nearly 1750 kids in Hyderabad who are suffering for the same disease. Though there is no cure for this disease many of them opt for changing blood frequently and maintain the HB level.

I cannot say that the kids with THALASSEMIA will be the same  as normal kids. But they will be active and will be able to perform their normal routines.

One help which we can do to these kids by arranging blood on time. Next educating youth and newly wedded couple about the disease so that we may avoid this kind of situations in future.

As per me there are hundreds of hema chandras around us. So we need to think if we can do anything to them rather than concentrating on one.

F A Q's

Q.1 What should be the Pre -Transfusion Hemoglobin (Hb) ?
A.1. The pre-transfusion Hemoglobin should be maintained between 9-10g/dl .

Q.2 When should the Chelation therapy start ?
A.2. The Iron Chelation should start after 15 Transfusions or when the Serum ferritin levels are 1500-1800ng/ml.

Q.3 Why are Thalassemic children short in height ?
A.3. Thalassemia has nothing to do with short stature. Its only when the the child is poorly chelated and there is iron overload on the endocrine glands, thus disturbing their function.

Q.4 What should the post transfusion Hb levels be ?
A.4. The post transfusion Hb levels should not be more than 15g/dl. Higher levels increase blood viscosity and reduce tissue oxygenation. It also accelerates iron overload.

Q.5 What is the right age to go to an endocrinologist for a regular checkup of the child? Is it necessary if the child visibly appears to be normal ?
A.5. It maybe worthwhile to be in touch with a Paediatric Endocrinologist right from the time of diagnosis. An assessment of growth pattern can be done on a 6 monthly basis. However, most of the endocrinological problems set in with increasing age and high serum ferritin above 4000-5000 ng/dl. Children above 10 years need to be evaluated for thyroid function, hypocalcemia, puberty onset, diabetes and pancreatitis, etc .

Q.6 Is it essential to give folic acid ? If yes, then in what dose ? 
A.6. Due to increased red cell destruction and turn over in Thalassemia patients there is increased demand for folic acid and vitamin B -12. Most of this is obtained from the daily dietary requirements. However it is recommended to give folic acid 2.5mg thrice a week, especially in patients who maintain low Hb levels of less than 9.0gm% .

Q.7 What are the regular observations which should be done when the child goes for transfusion ?
A.7. It is advisable to double check the blood bag and the cross matching form for the details of the patients age, sex, name, registration number and most importantly the Blood Group. Blood Transfusion should be stopped if there is any reaction like fever, rash, headache, vomiting, dizziness, nausea etc. Call the attending doctor or nurse for immediate attention .

Hyderabad Thalassemia and sickle cell society link

http://www.youtube.com/watch?v=UYjpM8Pq8Ps