Infant mortality and reproductive wastage associated with different genotypes of haemoglobinopathies in Orissa, India.
BACKGROUND
Haemoglobinopathies, including sickle-cell disease and thalassaemia syndrome, are a group of blood diseases mostly confined to tropical and subtropical regions of the world. The spectrum of haemoglobin variants is a group of commonly encountered genetic conditions, with an average frequency of 19.32% in Orissa, varying from region to region and from community to community depending upon the type of mating practices.


OBJECTIVE
For the first time, the infant mortality rate (IMR), i.e. the number of deaths under 1 year of age (in a given year) per thousand live births in a particular area, was studied to find the cause of the high IMR and to relate it to different genotypes of haemoglobinopathies.


RESULTS
IMR was found to be higher in couples with sickle-cell trait (75.9), beta-thalassaemia (184.2), and sickle cell/beta-thalassaemia (70.2) compared to normal couples (26.3). The reproductive wastage (abortions, stillbirths and neonatal deaths) and the number of deaths of offspring below 1 year of age (infant mortality) and below 10 years of age (childhood mortality) among affected couples in such families were also statistically significantly higher compared to normal parents.


CONCLUSIONS
The progeny of sickle-cell trait, beta-thalassaemia trait, and sickle cell/beta-thalassaemia couples contributes substantially to the high neonatal/IMR in the coastal state of Orissa in Central-Eastern India. This study has revealed that in comparison to normal couples, couples who were carriers of haemoglobinopathies had a greater reproductive wastage. Screening and genetic counselling could be an important factor in reducing IMR in rural India. The traits/carriers of haemoglobinopathies should, specifically, avoid marriages and mating for the better health of subsequent generations.
Balgir
R S
RS
Division of Human Genetics, Regional Medical Research Centre (Indian Council of Medical Research), Opposite Kalinga Hospital, Chandrasekharpur, Bhubaneswar-751023, Orissa, India. balgirrs@yahoo.co.in
D002648:Child; D046688:Child Mortality; D002675:Child, Preschool; D005191:Family Characteristics; D005260:Female; D005298:Fertility / Q000235:genetics; D005838:Genotype; D006453:Hemoglobinopathies / Q000235:genetics* / Q000401:mortality*; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007226:Infant Mortality; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome