Health Care Challenges of 
Hereditary Common Hematological Disorders in Odisha, India

Balgir RS

Abstract:

Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences. This emergence is related to a great extent to the progress in the Human Genome Project, which promises wide-ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, the discussion on the role of genetics as the preventive medicine and public health care also lead to ethical, legal and social concerns about general applicability of genetic testing in the ethnic communities. The interpretation of prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, stem cell transplantation, prenatal diagnosis and selective termination of pregnancy, as well as broader concerns about discrimination in health care coverage, gender bias, employment and insurance in the society. In Indian communities where consanguineous marriage is widely practiced, recessive/x-linked genetic disorders such as sickle cell disease and beta-thalassemia, 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 public health genetics is ideally suited to conditions in Odisha.
Key Words: Medical Genetics; Sickle Cell Disease; b-Thalassemia; G6PD Deficiency; Public Health Burden; Odisha.

The human population of the state of Odisha is comprised of many subgroups, divided by geography, language, religion, castes (patrilineages), and scheduled tribes with endogamous norms of marriage. The net effect of endogamous practices has been the creation of multiple genetic isolates with individual profile of genetic and erythrocytic disorders (1,2), but to date the clinical consequences of this highly complex differentiation have been largely ignored.(3,4) In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians, biological anthropologists, social scientists and public health administrators in the state of Odisha.(5,6) The significant progress made in improving childhood nutritional status and combating infectious diseases means that genetic and erythrocytic disorders have assumed ever-increasing importance in the state of Odisha.

The primary prevention of human diseases in the context of medical genetics refers to prevention of disease entity for which the gene or genes in question play a major role.(7) How can that occur? While gene therapy may become appropriate to correct certain deficient gene products leading to human disease, primary prevention of many multifactorial human diseases will entail understanding and interruption of the environmental cofactors among individuals who inherit genetic susceptibility (polymorphisms or disease mutations). The ultimate and powerful realization could be the driving force in medicine, public health and society at large to accept once and for all our genetic make-up and direct our focus and attention to the prevention of human diseases and suffering by targeting our disease prevention strategies to modifiable risk factors (e.g. dietary factors) according to each and everyone's unique biological susceptibilities. Such a realization could also be the engine that drives the much-needed reform in our health care system.(8, 9)

The advent of molecular testing has been a great boon for the people, as this has enabled antenatal diagnosis of many burdensome disorders, which were earlier not identifiable in the fetus. Molecular diagnosis is now possible for a large number of genetic disorders. At present, there are three established medical colleges at Cuttack, Burla and Berhampur in the state of Odisha. Medical colleges located at Berhampur and Cuttack cater to the health care needs of coastal Odisha, whereas, at Burla it covers the whole of Western Odisha. The 11^th Five Year Plan is being implemented to open a branch of All India Institute of Medical Sciences, Bhubaneswar and three medical colleges at Rourkela, Bhawanipatna and Koraput in Odisha. Although the health infrastructures and treatment facilities are inadequate in Odisha (10), it is further marred by the lack of any Medical Genetics faculty and facilities in the state.

Among the various common genetic diseases such as cancer, cardio-vascular diseases, diabetes, hemophilia, color blindness, chromosomal aberrations, congenital malformations, inborn errors of metabolism, psychiatric anomalies, etc. among others prevalent in Odisha (11), the sickle cell anemia (12-14), β thalassemia and glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency are the most dreadful ones.(15) These ailments in the children are accounted for defective genes inherited from the parents.(16-18) The patient has to undergo various trials and tribulations including frequent blood transfusions and painful injections from time to time for the normal survival of the affected offspring.(3,12-14)

With the ever-increasing disorders of blood like sickle cell disease, β thalassemia and G6PD deficiency in the populations of Odisha, the detection, treatment and management (12-14) of these genetic disorders have become a cause of worry for the medical practitioners (16,17), researchers as well as state�s health policy makers, administration and the welfare organizations including the NGOs.(19,20)

In Odisha as a tradition and convention, the horoscopes of both to be partners are generally matched before the finalization of a marriage of a couple. But now it has been over emphasized and realized that rather than the horoscope, the blood of the couple should be matched to prevent the severe hereditary disorders in the offspring/family and community.(7,21,22)

Every individual carries two sets of genes inherited each from biological parents. If one set of genes were defective one, the person would be a carrier or trait for sickle cell disease/ beta-thalassemia. It is surprising that the carrier parents are as normal as any other parent without this genetic defect. In this case, as another set of genes is normal, the carrier can still lead a healthy life. Such carriers are known as sickle cell trait/thalassemia minor. However, when a child has �carrier father� and �carrier mother�, the chances of inheriting defective genes from both parents are 25 percent in every pregnancy resulting in the disease. Thus, the children of carrier parents have 25 percent chance of having a sickle cell disorder/β-thalassemia in every pregnancy. In this case, it is known as sickle cell disease/ β-thalassemia major. The β-thalassemia is prevalent in Mediterranean countries and is also known as �Mediterranean anemia�, whereas, the sickle cell disease is prevalent in African countries and other tropical and subtropical parts of the world. If any married couple comes to know through testing the blood regarding the carrier status, he/she should advise immediately to the spouse to get tested for these genetic disorders. Carrier parents are generally advised to avoid producing their own children, but can adopt a child of his/her brother/sister, relative or friend. They are given genetic counseling at each pregnancy for prenatal diagnosis, adoption of a child of relative or of any friend.(21-23) This is because of the fact that repeated blood transfusions, chelation therapy, maintenance the child under aseptic conditions, frequent travel and loss of working hours, exorbitant cost of medicines, expensive bringing up, etc. are too burdensome for an average or mediocre family.(4)

Studies have revealed that the tribal populations of Western and Southern parts of Odisha are prone to sickle cell anemia and G6PD deficiency; the coastal region is mostly vulnerable to β-thalassemia and G6PD deficiency. Communities such as Khandayat, Chasa, Kulita, Agharia, Brahmin, Karan, Teli, Gauda, Dhoba, Pano, Ganda, Dom, Gond, Kharia, Paraja, Bhatra, Munda, Santal, etc. are at risk and highly vulnerable to these genetic disorders in Odisha state. Most of these communities practise consanguinity (27), which further increases the homozygosity and severity. This also leads to high morbidity, mortality and fetal wastage in Odisha.(4,26) Initial studies in Odisha state pertaining to sickle cell disease were carried out by anthropologists.(28,29)

Although the High Performance Liquid Chromatography (HPLC) machine used for the detection of sickle cell disease or beta-thalassemia is less time consuming and reliable to some extents over the traditional method of electrophoresis, but it is not confirmatory test over molecular techniques, which determine the exact defect in an individual. Moreover, it is costly to poorer sections of the society who are at high risk, most vulnerable and cannot afford to pay money. These genetic disorders are rampant among the poor section of the people.(19,20)

It is deplorable that cases of sickle cell anemia and β-thalassemia major require repeated blood transfusion to maintain their survival under healthy conditions. The total life span of the RBCs on an average varies from 90 to 120 days. Unfortunately in the state of Odisha, these patients are given blood transfusions before the actual diagnosis is made. The amount of blood transfused is also sometimes influences the laboratory investigation report. Sometimes, the attending doctors refer the suspected cases of above blood disorders for electrophoresis and hematological investigations immediately after the blood transfusion. The transfused blood interferes with the accurate diagnosis of the patient. This leads to misdiagnosis of the cases where the past history is not taken. Sometimes the parents of the affected child are also the blood donors for the child. Since these disorders are hereditary in nature that means both of the parents are carriers for the disease. Hence parents� blood is also partly defective one and should not be given to the patient, in general. In most of the cases, the investigation reports vary from laboratory to laboratory due to this fact, which create confusion to the attending physician. These are technical and very important aspects, which should be taken care of. Therefore, it is advisable that the patient should be sent for hematological laboratory investigations at least one month after the blood transfusion or immediately before blood transfusion.

It is pathetic that the adequate treatment and management facilities are not available for the sickle cell disease, β-thalassemia major and G6PD deficiency cases even in the capital city of Bhubaneswar. Adequate treatment and management facilities need to be extended to at District Headquarters Hospital level for hereditary hemolytic disorders in the state. The accumulated genetic data have enhanced the rapid advancement of clinical genetics in Odisha.(21-23)

Currently in India, the emphasis is on the small family norms and the socio-economic constraints have created a desired in all the eligible couples that every child born should be normal. Thus, it has been emphasized that medical genetics play a pivotal role in the clinical practice, therapy, innovative developments, prevention, and the management of genetic diseases.