Rural Initiatives
It is one of the major aims of the Moving Academy of Medicine and Biomedicine to reach out to the rural population. Here we provide details of one such programme
Research cum service program titled
'Prevention of Human Genetic diseases in Rural India (Maharashtra)'
- Great strides have been made in the health sector in India since independence. There has been a progressive decline in infant mortality and an increase in life expectancy, which has been doubled from 31 to 65 years in the last fifty years. Although infections cannot be still ignored non-communicable disorders genetic diseases in childhood and age related disorders such as cancer, cardiovascular and neurological disorders and diabetes now form substantial health burden. Infant deaths due to diarrhea have been significantly reduced. There is substantial reduction in fertility rates and even rural sector is now witnessing small families. In this health scenario it is necessary to ensure that the newborns are free of genetic/congenital disorders, which places heavy emotional, social and financial burden at the level of individuals, family and the society as a whole. In nations where infections have been controlled congenital/genetic disorders account for 45 % of Pediatric ward admission. This should also be the case in India in the next few decades. This is the most opportune time to launch a program of prevention of genetic diseases. This is the theme of this project.
- The project is a joint venture between two Pune based charitable NGOs Moving Academy of Medicine and Biomedicine (Regd. No. 1095/2001) and Vanasthali Rural Development Center (No. F/2079).
- The project is being conducted in Purandhar taluka of Pune district. The study area is mostly rural with only three towns namely Sasvad, Jejuri and Nira; the most populous being Sasvad (Population 26,689 ).
- Table depicts the demographic figures based on 2001 census. It is heartening to note that in the study area family size has been substantially reduced. Number of persons per household even in the rural sector is only 5.0. In other words in a society where joint family is still the rule, there in not only even one child per family. Naturally the parents are very keen to have healthy babies free of any defects. This was reflected in our informal discussions with the community.
- Educational levels are also very high. Even in the rural sector female literacy is now 63.5%. In towns male literacy is 91%
- The project, which was launched in October 2005 aims at prevention of common congenital/genetic disorder through prenatal and neonatal screening programs associated with counseling. In the process latest health care technologies would be made available to village folks.
- Second equally important component of the program is community education aimed at creating awareness of genetic diseases and their prevention. For this purpose educational camps are held in Marathi (Fig). In addition to power point presentations, a number of posters in Marathi highlighting various aspects of the common genetic diseases and their prevention are exhibited. Brochures describing in layman's language salient features of the disorders mentioned below and their prevention are distributed in the community.
- Immediate focus is on four most common congenital/genetic disorders namely
- Beta - thalassemia (Hemoglobinopathies), which represents a genetic defect in synthesis of hemoglobin, the carrier of oxygen in the blood, is the most common genetic abnormalities in India where its carrier frequency is about 3%, and some 9000 children are born every year with this disorder. They suffer from sever anemia and need repeated blood transfusion simultaneously running high risk of contracting HIV and hepatitis. Despite treatment, which is very expensive, most of patients die by 20 years of age.
- Down Syndrome (DS) is the most important congenital cause of mental retardation. Its incidence is about 1:800 births rising sharply in mothers above 35 years of age.
- Neural tube defect (NTD) is a crippling developmental abnormality of the nervous system. In India, its incidence is between 0.5-11 per 1000 births Folic acid deficiency, which is widely prevalent in India, is the single greatest factor in causation of NTD. Dietary supplementation of 400 to 800 ug a day of folic acid before conception reduces incidence of NTD by 75%.
- Congenital thyroid deficiency is a completely preventable cause of mental retardation. Its global incidence is around 1: 3000 births. In India it is much higher (1:1800).
- Small quantity of blood is collected from pregnant women between 14-18 weeks of gestation under field conditions and subjected to the following tests which are carried out in Academy's laboratory at Pune:
- Complete hemogram and electrophoresis of hemoglobin. Each sample is subjected to complete hemogram. If a pregnant woman is found to be anemic her Hb is subjected to electrophoresis for measurements of HBA2 levels. If HbA2 is more than 2% the women is diagnosed as a carrier and her husband is also tested for carrier status. If both are found to be carrier the women is advised to undergo a prenatal diagnostic test on her placental (fetal) tissue and depending on the result adviced accordingly.
- Maternal serum sample is subjected to estimation of AFP. Other markers serum markers (Free estradiol and hCG) are also estimated in those having low levels of AFP. Taking into account the chronological age of the pregnant woman and gestational age of the mother fetus risk is assessed with computer programming. Women at high risk are subjected to prenatal cytogenetic studies conducted on their amniotic cells, and appropriately counselled. In the Western world this test is almost mandatory for pregnant women above the age of 35 years. High levels of serum feto protein are suggestive of NTD, which is confirmed by ultrasonography.
- For congenital thyroid deficiency thyroid hormone levels will be measured on a drop of blood obtained from heal prick using Gutherie technique. For this purpose local paramedics will be suitably trained. Neonatal screening for deficiency of thyroid hormones is routinely performed on every newborn in developed countries.
- The project is going on at a low key for want of funds. Most of the time has been spent so far in developing rapport with the community and sorting out operational problem.
- All laboratory techniques have been standardized. Serum AFP, free estradiol, hCG and ferratin levels are measured using ELISA. Samples showing abnormal values will be crossed checked at a reputed laboratory in Pune. HbA2 level of more than 2% in cellulose acetate paper electrophoresis are used as the criteria for identifying a thalassemia carrier. Preliminary results are shown in the figure below.
Serum AFP has been estimated in some 70 pregnant women between 14 to18 weeks of gestation. Four cases, in which it was raised, were subjected to Ultrasonography (USG). None showed any abnormality. In one case the levels were very low and taking into account the results of the triple markers test and age of the patient risk for Down syndrome was put as 1:77 against the normal of 1:1547 for that age. However, on USG it was found that the lady had miscalculated the term. This is one of the major problems in such field studies. So far no case of thalassemia carrier has been detected.
| Some demographic details of Purandhar Taluka (2001 census) | ||||||
|---|---|---|---|---|---|---|
| Population (Literacy%) | Persons / household (Number) | Children 0-6 yrs | ||||
| Total | M | F | Total | Per House hold | ||
| Rural | 164,604 (75.3) | 88,885 (86.5) | 85,719 (63.9) | 5.0 | 22,748 | 0.645 |
| Urban | 48,824 (84.6) | 25,215 (91,0) | 23,609 (77.9) | 4.7 | 6,474 | 0.629 |
| Total | 233,428 (77.3) | 114,100 (87.5) | 109,328 (66.9) | 4.9 | 29,222 | 0.641 |
Prevalence of thalassemia in Jejuri block
A separate population based project has also been launched to study prevalence of thalassemia and its carriers in the same community. The target population is students both boys and girls between age of 12-16 years. On 9th March 2006 members of Moving Academy visited Senior College of Arts, Jejuri.at the invitation of Dr. Archana Dhekhane, the Principal of the college. The college, which is housed in remodeled old Ahilya Bai Holkar 'vada', has some 18 class rooms, offices, library etc including a computer room. The college has recently started a 3-year computer course. The total strength of the college is about 300 students
The students gathered in the 'auditorium' where they were first addressed by Principal Dr. Mrs Archana Dekhane who explained to them the purpose of the visit of the Academy members and stressed how important it was to get blood tested especially for the genetic diseases of haemoglobin. Dr. Deo then explained to them basic facts about 'Thalassemia', a form of hemoglobinopathy, in very simple terms in Marathi with help of power point presentation. Ninety-two students and 7 lecturers attended the lecture
The impact of the lecture was assessed through pre and post lecture MCQ tests in Marathi. Students were asked just 10 most relevant questions such as signs and symptoms, genetic basis, transmission pattern, and how to prevent the disorder through prenatal diagnosis. However, not even one student knew any thing about the disease before the lecture. Therefore only post-lecture MCQ test was conducted to find out how much they have gained from the lecture. The session was highly interactive. Pre-lecture score was 0% (No awareness about the disease). The average post lecture score was 94.1%, an indication of the effectivity of the approach.
After the lecture all students volunteered for the study. In addition to knowing the status vis a vis thalassemia they also wanted to know their blood groups. The study will get in to full swing in July after the students return from vacation.