Academic journal article International Journal of Child Health and Human Development

Reproductive Wastage in Carrier Couples of Hemoglobinopathies: Experiences from a Retrospective Study in Madhya Pradesh, India

Academic journal article International Journal of Child Health and Human Development

Reproductive Wastage in Carrier Couples of Hemoglobinopathies: Experiences from a Retrospective Study in Madhya Pradesh, India

Article excerpt

Introduction

The hemoglobinopathies are a group of heterogeneous single gene disorders that includes the structural hemoglobin variants and the thalassemias. More than 270 million people worldwide are heterozygous carriers of hereditary disorders of hemoglobin, and at least 300,000 affected homozygotes or compound heterozygotes are bom each year (1). It has also been estimated that about 45 million are carriers and about 15,000 infants bom each year with hemoglobinopathies in India (2). Of the several abnormal hemoglobins so far identified in India, there are three variants - sickle cell (Hb S), hemoglobin E (Hb E) and hemoglobin D (Hb D), which are predominantly prevalent (3). There are regional variations for the distribution of these structural variants of hemoglobin. The cumulative allele frequency in different parts of India for these variants has been found to be 5.35% (3). The average allele frequency of sickle cell and hemoglobin D has been observed to be 4.3% and 0.86%, respectively with hemoglobin E constituting 10.9% in North Eastern region of India (3). The sickle cell disease is wide spread in tribal as well as in nontribal communities especially in the Central-Eastern region of India. With a prevalence range of 3-17% (average 4.2%), the ß-thalassemia syndrome is prevalent throughout India (2). Thus, hemoglobinopathies are a huge genetic burden and pose a major clinical health care challenge in India.

The sickle cell hemoglobinopathy and ß-thalassemia syndrome are a major genetic and community health care challenge in Central India. The victims include the infants, growing children, adolescent girls, pregnant women and a large number of ignorant and vulnerable people. Inherited disorders of hemoglobin cause high degree of hemolytic anemia, clinical jaundice, frequent infections, painful crises, splenomegaly, development and growth retardation (4-6) and are responsible for high infant morbidity, mortality and fetal wastage in India (7-10). In sickle cell disease, the distorted red cells lead to increased viscosity, hemolysis, and anemia and a further decrease in oxygenation. When sickling occurs within small blood vessels, it can cause logjams (clogging) that can interrupt blood supply to vital organs (vasoocclusive crisis). Repeated vasoocclusive crises result in widespread microvascular obstruction with interruption of normal perfusion and function of several organs, including the spleen, lungs, kidneys, heart, and brain. Adults with sickle cell disease are functionally asplenic, having undergone auto-splenectomy and contribute to the increased incidence of severity of infection. A great deal of literature is available in India regarding the clinical and hematological aspects of these disorders, but the details regarding the reproductive outcome in affected couples are scanty (8,11).

The neonatal (NMR) and infant mortality rate (IMR) are the most important indicators of socio-economic status of a community/country. After the failure of achieving the target goal of "Health for All by the year 2000" the emphasis and thrust of Indian government has shifted to qualitative improvement in the health services through strengthening of physical facilities like provision of essential equipment, supply of essential drugs and consumables, construction of buildings and staff quarters, filling up of vacant posts of medical and paramedical staff and ongoing in-service training of staff to enhance their knowledge in the latest medical development and technology. The stress, however, remained on the provision of preventive, promotive and rehabilitative health services to the people, thus, representing a shift from medical care to health care and from urban to rural population of India. For developing vast human resources of the country, accelerating the socio-economic development and attaining improved quality of life, Primary Health Care has been accepted as one of the main instruments of action.

Early detection and effective clinical management of anemia in pregnancy may contribute substantially to the reduction in under-nutrition in childhood, adolescence and improvement in maternal health and reduction in maternal mortality. …

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