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Menace of Thalassemia

I) What Is Thalassemia?
• A type of severe anaemia which cannot be corrected by any type of medication

• Anaemia is due to reduced or defective production of haemoglobin

• Life of a Red Blood Cell is much shorter as compared to that of normal 120 days

The primary cause of Anemia in Thalassemia is defective formation of Hb. When the child is in the womb red cells contain fetal Hb. After birth the body stops producing fetal Hb and starts the production of adult Hb, the process is complete within 6 months to1 year
In Thalassemia adult Hb production does not start while fetal Hb produced to some extent, is not sufficient.

There is reduced red cell survival in Thalassemics. While life of RBC’s is 120 days in a normal person they die much earlier say within 10-20 days causing further loss of Hb and thus anemia.

II) MISERIES OF THALASSEMIA

In Thalassemia the blood formation is defective since birth and the survival depends on repeated blood transfusions. To start with the child has to take 1 unit of blood every month, requirement of blood also increases with increase of age and weight.

Normally the blood cells are formed in the bone marrow flat bones of the ribs and long bones. In Thalassemia Major if we do not give adequate transfusion then all bones of the body starts producing blood cells though they are devoid of Hb and cannot correct anaemia but in this process they become swollen and porous leading to disfigurement of the face and brittle bones. .

With each unit of blood around 250 mg of iron goes inside the body and if not excreted causes damage to various organs. To extract this extra iron the child has to take injection Desferal with the help of a pump over a period of 8-12 hrs. every night throughout life

Cost of therapy Rs. 50,000 to 2,00,000 per annum. Unfortunately if the child gets Hepatitis B, C, HIV infection, Splenomegaly (Enlargement of Spleen) or other undercurrent infections the cost of medicine, surgery and investigations further rises to many fold.

Repeated hospital visits, loss of school days and man hours to the family leading to loss of education to the child and loss of revenue to the family.

"Help us to help them"

Why to Prevent and How to Control

Miseries Of a Thalassemic

Age Blood Trans. Iron Chelation Cost of therapy
(in years) (units/year) (Desferal Inj)    (Approx. per year)
0-6              12-18        1 vial/day       Rs. 30,000-50,000
6-12            18-24        2 vials/day      Rs. 50,000-1,00,000
12-18          24-36        3 vials/day      Rs.1 lac-1.5 lac
18 +            36-48        4 vials/day      Rs.1.5 lac-2 lac

Unfortunately if the child gets Hepatitis B, C, HIV infection, Splenomegaly (Enlargement of Spleen) or other undercurrent infections the cost of medicine, surgery and investigations further rises to many fold.

NEED for preventing and controlling the disease

• India - carrier rate is 3.5%
• ICMR - 5.6% of Delhiites Carriers
• 10,000 to 12,000 Thalassemia Majors are born every year
• 200 added every year in Delhi
• Prevalence is high in Punjabis, Sindhis, Bengalis, Gujaratis.
• 1 Thalassemic child born every 45 minutes

Thalassemia is not a disease of a few people.10,000 to 12,000 Thalassemia Majors are born every year in our country and 200 added every year in Delhi alone. Rs. 1,250 crores are required annually to treat approx. 1 lac Thalassemic children in the country

•Ignorance of Thalassemia in general public and medical professionals.

Principles to be kept in mind!

 Best possible patient care
 Community information
 Carrier screening
 Marriage counseling
 Prenatal diagnosis

The “concept” of prevention lies with providing a comprehensive strategy combining with best possible patient care coupled with prevention by community information, carrier screening, marriage counseling and offer for prenatal diagnosis.

Unless and until we provide optimum care to Thalassemic patients there would be no Thalassemic left to tell his sad story. Living and grown up Thalassemics and their parents can form strong pressure group to convince the authorities and the public the need of prevention.

There is no cure and hence needs prevention. Every one between the age of 18-35 should get themselves screened to know their Thalassemic status and avoid getting married to a Thalassemia minor if they are one too themselves.

Awareness in the Medical Fraternity

Obstetricians: to rule out Thalassemia in early pregnancy. Since prevalence is high, ignorance is high, screening is difficult in schools and impractical at pre-marital stage, the rule of thumb should be “To screen every pregnant woman whenever she pays her first visit to antenatal clinic”.
General Practitioner: to diagnose Thalassemia during routine examination for anaemia. MCH<27, MCV<80 & RBC count higher in comparison to Hb level indicates the need to differentiate iron deficiency anaemia and Thalassemia Trait.
Pathologists: to recommend Hb Electrophoresis while reporting CBC.
Pediatricians: to provide best management care to existing Thalassemics and guide the family to take preventive measures in future. The identified carriers should be clearly informed that siblings have one in two risk, uncle and aunts one in four and cousins one in eight risk of being carrier.
Nurses: to educate the Thalassemic families the need of proper management & screening of other family members.
Lab Technicians: to upgrade them the available methods in Thalassemia screening.
Chemists and Pharmacists, Medical Representatives

All the paramedical have close interaction with general public besides the patients they deal. Their statements are considered standard & blindly followed in their social circle. Creating awareness among them go a long way in creating atmosphere for prevention & control of Thalassemia.

4 P’s of Prevention

Political Will: For successful implementation of any project political will has to be there. Unless and until you have politicians and bureaucrats on your side it is difficult to crack the hard nut. Luckily we have got some support from present Govt. of NCT, Delhi and some steps have been taken in this regard like:
Pregnant women visiting antenatal clinics of DDU, GTB and LNJP hospitals are screened for Thalassemia status and advised antenatal diagnosis if required. Delhi Govt. is also in the process of getting this facility available at all the Govt. hospitals of Delhi.

Public: Unless and until the public is made aware of the problems of Thalassemia and preventive measures to be taken prevention programme is not going to succeed. Electronic & Press media has important role to play in sensitizing the community. Distributing booklets, brochures, posters and hoardings play key role in prevention. Community leaders and social workers also play an important role in motivating the public to adopt preventive measures.

Professionals: General Physicians especially obstetricians & gynecologists are the main keys of Prevention. While general physicians and gynecologists can diagnose Thalassemia Trait during routine anemia screening. Obstetricians have the master key to save the family from unlimited, unbearable, intolerable, repeated trauma of life long blood transfusions, hospitals visits and unmanageable financial burden.

Patients: Parents of the Thalassemia patients and parent associations can form a strong pressure group to convince the Govt., involve the media, motivate the public and take the help of professionals to reach the ultimate goal of Prevention.

NTWS Liaison with Government

Our liaison with Delhi Govt. got following steps on Awareness

Thalassemia Screening of Pregnant Women: Delhi Govt. is providing Thalassemia Screening to Pregnant Women at DDU, GTB & LNJP Hospitals. We are in the process of extending this facility at all Govt. Hospital in Delhi.

Advertisements in News Papers: Delhi Govt. put quarter page advertisement in 8-10 leading dailies during the inauguration of our 3rd & 4th National Thalassemia Conferences and also at other occasions.

Posters and Leaflets: Over 20,000 posters and 1,00,000 lac leaflets were printed to distribute during our Thalassemia Chetna Rath Yatra.

Film on Thalassemia: NTWS with the help of Directorate Health Services Govt. of Delhi has filmed a Docudrama “Chetna” to create awareness on Thalassemia. It will be telecasted on Doordarshan and Cable TV. It is also available in CDs on request to individuals and organizations who wish display it at public places.

Hoardings: Directorate Health Services Govt. of Delhi has put 100 hoardings at prominent place to spread awareness.

Electronic Display: Very soon you will see electronic display of massages on Thalassemia prevention in Delhi.

FM Radio: Massages on FM Radio are also in the offing.

Medical Awareness

Carrier Screening

Family Centered Approach: This reduces the risk of further affected children in the same family, siblings and relatives.
Antenatal Screening: All pregnant women attending antenatal clinics at Govt./Private centres must be screened for Thalassemia carriers.
Family Centered Approach: The family members and relatives of Thalassemia Major should be encouraged for Thalassemia screening since they carry the highest chance of being carriers.
Antenatal Screening: of Thalassemia has highest yielding results since it is going to prevent the pregnancy in question. All pregnant women attending antenatal clinics at Govt./Private centres must be screened for Thalassemia carriers.

Population Screening or Prospective Screening: It should be reflected as part of Anaemia Screening
Cascade screening: Carrier detection based on family studies i.e. once a carrier is identified follow-up of other family members greatly increases the efficiency of screening.
Siblings have one in two, uncle & aunts one in four and cousins one in eight risk of being a carrier.

Bone Marrow Transplantation

Bone marrow transplantation (BMT) offers complete cure of Thalassemia. Lifelong transfusion and chelation are not required following successful BMT.

Bone marrow is a spongy tissue found inside the bones. The marrow of the chest bones, the skull, the hips and the spine contain stem cells that produce the blood cells, mainly, RBCs, WBCs, and platelets.

BMT comprises the transfer of bone marrow (a graft) from a subject (donor) to a patient (host).The patient’s marrow is destroyed by drugs, in a process called “conditioning”, and healthy marrow, usually harvested from the hip bone of a HLA-matched donor, is infused into the patient’s blood stream. The donor bone marrow cells migrate to the cavities of the large bones, engraft, and start producing normal blood cells.

Selection of Donors

Success of the bone marrow transplant depends on finding a suitably matched donor with the recipient. In the case of Thalassemia, there are basically three sources of finding an HLA matched donor for BMT purposes:
• HLA identical healthy sibling donor.
• Registries of HLA typed voluntary marrow donors.
• Ante-natal HLA matching by prenatal screening of chorionic villi samples (CVS) to determine HLA identity of the fetus at 10-12 weeks of pregnancy. Cord blood can be used for stem cell transplantation in the presence of perfect HLA match.

Complications of BMT

Infections.

Causes of post- transplant infection

First month: Bacteria, Fungi, Herpes Simplex virus
Second, Third Month: Cytomegalovirus, other viruses, bacteria, fungi
4th to 12th month: Varicella Zoster Virus, bacteria, fungi

Bacterial infections

Fungal infection

Viral infections

Herpes Simplex (HSV)

Cytomegalovirus (CMV)

Varicella Zoaster Virus