Disease- what is it?
Hemoglobinopathies (Thalassemia & Sickle cell disease) are abnormality in Hemoglobin. In thalassemia the structure of hemoglobin deforms, whereas in sickle cell anaemia red blood cell shape deforms to sickle shape. Making the patient severely anaemic and the oxygen carrying capacity of the blood is compromised.
- Being an important cause of morbidity and mortality, they impose a heavy burden on families and the health sector in our country.
Who does it affect?
It can affect anybody, but majorly Tribals because of the practice of marriages in close communities.
What causes it?
Hemoglobinopathies (Thalassemia & Sickle cell disease) are inherited disorders of red blood cells. Mutation in the gene causes the disease.
When does it strike?
Person with defective gene marrying with another person can transmit the disease in their offspring. Specific combination will decide the severity of the disease.
How many forms?
Two forms occur Homozygous (Severe form of disease) with two mutated genes. Heterozygous (almost normal person) with one mutated gene.
Population and region- how many are affected and are they located in certain regions
Stats
- India has the largest number of children with Thalassemia major in the world – about 1 to 1.5 lakhs and almost 42 million carriers of ß (beta) thalassemia trait.
- About 10,000 -15,000 babies with thalassemia major are born every year.
- Sickle cell disease affects many communities in certain regions, such as central India and States of Gujarat, Maharashtra and Kerala. The carrier frequency of the Sickle cell gene varies from 1 to 35 % and hence there are a huge number of people with Sickle cell disease.
- An estimated 7% of the world population carry an abnormal hemoglobin gene.
- About 300,000 -500,000 are born annually with significant hemoglobin disorders.
- Sickle cell syndromes are more frequent and constitute 70% of affected births world-wide, the rest are due to thalassemias.
- Thalassemias constitute the major burden of disease as management of both requires lifelong blood transfusions and iron chelation.
- Sickle Cell Disease (SCD) requires lifelong management and contributes to infant and childhood morbidity and mortality.
- In India, Thalassemia higher frequency has been observed in certain communities, such as Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas and Gaurs.
- Sickle Cell is highly prevalent in the tribal populations of Southern, Central and Western states reaching as high as 48% in some communities.
What are the precautions that can be taken?
Before marriage the prospective couple should get their blood tested for the mutated defective gene. The blood test can be done via electrophoresis or HPLC. According to their hemoglobinopathy status they should decide to or not to marry.
Available treatment:
The only cure available is bone marrow transplantation (BMT). However, this can help only a few patients because of cost Rs.1 crore, paucity of BMT centres, or non-availability of a suitable HLA matched donor. Therefore, the mainstay of treatment is a regimen of regular blood transfusions followed by adequately monitored iron chelation therapy to remove the excessive iron overload-as a consequence of the multiple blood transfusions. Thus it is a transfusion dependent disorder and places a great burden on healthcare services.
In a cost / benefit analysis done in Israel, cost of treatment of one patient for average life expectancy in Northern Israel was calculated to be $2,000,000 and cost of running a thalassemia control programme for one year was $400,000. Prevention is thus extremely cost effective rather than treatment of those who are affected.
In India, the cost of transfusing and chelating for one year was estimated at Rs. 200,000 for one year in 2008. With an estimated birth of 10,000 children with Thalassemia Major every year, and survival for 50 years, the cost of managing 500,000 children (10,000 x 50) works out to Rs.10000 crores.
Based on the experience of a pilot project funded and implemented under National Health Mission in Uttarakhand, the cost of screening one lakh adolescents was estimated at Rs.1 crore.
IMPACT OF PREVENTION PROGRAMMES WORLDWIDE
In Cyprus, it was estimated that if no steps for prevention were taken then there would be an increase in prevalence of affected births from 1:1000 to 1:138 and 600 % increase in blood transfusion requirement estimated over a twenty year period.
The successful implementation of a prevention and control programme has brought down the birth rate of those affected with thalassemia to almost zero and an augmented care programme has enabled the affected to have fulfilling lives.
In Sardinia, Italy, the introduction of the voluntary carrier screening programme was initiated in 1975 and it has reduced the incidence of thalassemia from 1:250 to 1:4000.
In Latium, Italy a voluntary screening programme for secondary school children and young adults in place for more than three decades has brought down the incidence of affected births to zero.
In Montreal, Canada, a successful voluntary screening programme in high schools for Thalassemia was started in 1980 and has led to a 95% decrease in the incidence of thalassemia.
It is evident from the above illustrated examples that an effectively implemented prevention and control programme can successfully bring down the birth of children affected with thalassemia major to almost zero over time.
This reduces the burden of disease and enables better lifelong care of those already affected and surviving with the disease born before implementation of the programme.
Prevention programme in India:
The WHO has listed the components of a control programme as follows:
– A strong political will and support
– Adequate finances for staff, equipment and chemicals
– Optimal treatment of those affected
– Carrier screening
– Genetic counseling, premarital or antenatal
– Prenatal diagnosis in couples where both the partners are carriers
– Awareness programme in the community, starting from the schools
– Monitoring of the programme
Innovation- what is it?
ID card – A very simple and inexpensive way of Prevention of disease with the help of technology.
Anyone can use sitting at home, a commendable step in eradicating the disease.
Who does it help?
- Will positively impact more than 20 crore people of the country.
How does it help?
| Currently available options | Benefits of GIPCI Card |
| Hydroxyurea + Folic acid + Blood Transfusion + Chelation therapy – lifetime, costs Rs.2 lakh per year. BMT (bone marrow transplantation) costs Rs 1 crore and 82% success rate. Sickle cell thalassemia blood test for Rs. 700/ -. | Rs. 200 / – to 400 / – card can save crores of rupees – can make a healthy society. The burden on health services will lessen due to the less cases. Because of less disease, there will be an improvement in the financial burden on the government treasury. Savings of Rs.10000 crores per year. |
| Genetic Counsellor salary is Rs.7,00,000 per year x 89 blocks requiring two Counsellor = Rs.12.50 Crore per annum. One Counsellor over 75,000 people. We have very few 100 Genetic Counsellor in the country. Even in large institutions lack Counsellors. | No need to go to Genetic Counselor, time, fuel will be saved. The elders in the house, ASHA workers, and the people themselves will be able to identify and counsel the possibility of the disease in their children, from the comfort of their home. The so-called most difficult task, is now very simple and handy. Can do countless match-making at ZERO COST. |
| Every seasonal change worsens health, hospitalization has to be done at least 4 times per year. | Elimination of incurable disease. No hospitalization required. |
What does it cost?
Rs. 200 / – to 400 / –
How is it used?
- Blood test is done – Initial test (Solubility, NESTROFT test) – Confirmatory (HPLC, Electrophoresis test).
- Based on the blood report GIPCI card is issued.
- Card matching: Before marriage the card of prospective couple is matched to see the result.
How easy to use GIPCI (Gypsy) card?
To use the GIPCI (Gypsy) card, all that must be done, is, place the male GIPCI (Gypsy) card on top of the female GIPCI (Gypsy) card, a see-through hole will appear in front of the correct result and a cross mark ⓧ will appear in front of all others.
- This GIPCI (Gypsy) card tells the possibility of disease in children / getting married / their% / appropriate/inappropriate things.
- GIPCI Card
- G – Genetic
- I – Inheritance
- P – Pattern
- C – Counselling
I – Identification card
Benefits of GIPCI Card:
- Identification of patients in school to relieve them from PT or hard work, help the teacher to remind the diseased child to drink water repeatedly, help the patient child not to stand in the sun.
- Blood Group Identification for Blood Transfusion.
- Warning not to prescribe contraindicated drugs.
- Information about what to do with the identification of the possibility of sickle cell and Thalassemia disease in children after matching the card before marriage.
- Counseling Video QR Code Scan.
- Matching the GIPCI (Gypsy) card is more important than matching the horoscope.
Who invented these patented cards?
Researcher couple Dr. Nisanth Nambison, Associate professor at Government Homoeopathic College and Hospital, and Dr. Smita Nambison have invented a forecast card that accurately forecasts the monogenic disorder that will occur in the children of a married couple. This will prove to be a revolution in medical science.
Motivation:
Prime Minister Modi appealed to the country’s researchers to find permanent cure for this, while returning from Japan after visiting scientist who is working on gene therapy:
Sickle cell thalassemia disease is found especially among Scheduled Tribes and Scheduled Caste people, this is the reason for their increased mortality and morbidity rate. This disease is also a major reason for their poverty.
Prime Minister Modi has described this disease in Parliament as a terrible disease than cancer. https://www.youtube.com/watch?v=iM-pa0OEEsQ