Birth Control Necessary to Limit Family Size in Tribal Couples with Aberrant Heterosis of G-6-PD Deficiency and Sickle Cell Disorders in India: An Urgency of Creating Awareness and Imparting Genetic Counseling
- Individuals who have followed a specific educational curriculum and who are certified genetic counselors (CGCs)
- Doctors or nurses with special training in the subject
These health care professionals are experienced in helping families understand birth defects and how inheritance works. They provide information that helps families make personal decisions about pregnancy, child care and genetic testing.
For whom the Genetic Counseling mean?
Anyone who has no answer to the questions about origins of diseases or traits in the family should consider genetic counseling. People who may find it valuable include:
- Those who have, or are concerned that they might have, an inherited disorder or birth defect.
- Women who are pregnant or planning to be pregnant after 35 years of age.
- Couples who already have a child with mental retardation, an inherited disorder or a birth defect.
- Couples whose infant has a genetic disease diagnosed by routine newborn screening.
- Women who have had babies who died in infancy or three or more miscarriages.
- People concerned that their jobs, lifestyles or medical history may pose a risk to the outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections.
- Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
- Couples who are first cousins or other close blood relatives.
- Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.
What does the Genetic Counselor do?
When one goes to a genetic counselor (he or she):
- Will record the family history (for instance, if parents, grandparents or siblings had heart disease, diabetes, sickle cell disease, G-6-PD deficiency, etc.) and medical background.
- May arrange appointments for blood tests, physical exams, or amniocentesis.
- Will try to put together a picture of how family’s health may affect the children.
- Will help interpret medical information about any risks present and explain the role of genetics in these conditions.
Often genetic counselors can determine the risk of occurrence or recurrence of a condition and the availability of tests for it.
Evaluation of tests results usually is coordinated between the genetic counselor, the person or couple and the doctor. In the occasional case of troubling results, the counselor will provide information to help make decisions (for instance, on the risk of having a child or more children). The counselor or the doctor can refer to resources in community that deal with a specific genetic condition, or to medical specialists, educational specialists or family support groups.
Referred Services for a Genetic Counselor
These may be provided by the Private Clinics, Nursing Homes, Government/Private Hospitals in the State.
A family can seek genetic counseling directly or be referred by a physician. Comprehensive genetic services centers are available, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.
Knowing more about genetic makeup also should lead to a more individualized approach to preventive medicine. One may be able to be tested to learn whether one is especially susceptible to certain diseases so that one can take steps to prevent them.
In India, genetic counseling is a communication process directly related to client or the patient. Prevention of genetic diseases is a recently emerging concept for disease management and is considered equivalent to the technological services. The main objectives of the genetic counseling are:
- To bring awareness of genetic diseases in the society,
- To offer information for prevention and control of genetic diseases through screening, carrier detection and prenatal diagnosis, and
- To proffer information for clinical aspects, prognosis and treatment of the disease.
On many occasions, it has been observed that mainly the ignorance of parents is responsible for the birth of a defective child. The birth of a child with thalassemia major or sickle cell disease brings mental stress on parents, family members, and society and also on the health care system. Treatment strategies such as blood transfusion, iron chelation therapy, stem cell or bone marrow transplantation, etc., although available in India, but add to economical, psychological and social burden and stress. Since about 60-70% of the families in India come from the low-income strata, to give proper treatment to affected children is beyond their means. Bone marrow or stem cell transplantation is so expensive in India that the most of the parents cannot afford it.14
Therefore, prevention is the only “mantra” (solution), which can ultimately control the birth of a thalassemia major or sickle cell anemia child. Thus, the genetic counseling comes into the picture that is, a technology that is economical, less stressful and ultimately plays the significantly key role in prevention and further spread of genetic diseases in the family and the communities.
Genetic counseling in India is generally given to the following categories of the clients/people:
*Individuals, families, relatives and to the high risk communities like Punjabi Khatri, Sindhi, Lohana, Agharia, Khoja, Jain and many scheduled castes and tribes, etc.
- Parents and relatives of thalassemia major or sickle cell disease child.
- Carriers or traits of sickle cell and thalassemia who have/do not have family history of sickle cell disease or thalassemia major.
- Couples at high risk (husband and wife being both carriers)
- Married and unmarried individuals with trait status.
- Voluntary social workers, educational institutes and welfare organizations
Genetic counseling should be given in different languages keeping in mind the educational and economic background, marital practices, social and cultural status, customs and traditions, psychological aspects, social attitude and perception of the individual and family.
In Indian population where consanguineous marriage is widely practiced, recessive/x-linked genetic disorders will continue to gain greater prominence in the overall spectrum of ill health. Developing an understanding of these changes will require a wide-ranging and multidisciplinary investigative approach for which community genetics is ideally suited to conditions in India.
The polymorphism of hemoglobin variants and G-6-PD deficiency is advantageous to community against lethal effects of malaria especially against Plasmodium falciparum at population level, but their combination is harmful at individual level because of low levels of red cell indices to cope with the routine human physiology.
It is a rare occasion when an individual is afflicted together with two independently inherited hemolytic defects, resulting in severe clinical and hematological manifestations.
Implications of the study are that prior adequate knowledge and awareness of hemoglobinopathies/G-6-PD status of a patient can prevent hemolysis associated morbidity and mortality especially in pregnancy and neonates in a state like Orissa, which has a dubious distinction for the highest infant mortality rate (73 per 1000 live births in the year 2007) in the country.
Currently in India, the emphasis is on the small family norms and the socio-economic constraints have created a desire in all the eligible couples that every child born should be normal.
Author is grateful to Dr. V.M. Katoch, Secretary (Department of Health Research) and Director General, Indian Council of Medical Research, New Delhi for providing the necessary facilities and Mr. R.K. Mishra, Lab. Tech. for the support in field and laboratory work. Thanks are due to all the participants for their kind cooperation during field work.
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