OBJECTIVE To assess the frequency of consanguinity in b-thalassemia major patients and its association with age, gender and hepatitis C virus antibody positivity. METHODS The cross-sectional study was conducted from June 2013 to July 2014 at various hospitals of district Bannu in the North Western Khyber Pakhtunkhwa province of Pakistan. Data was recorded on a predesigned questionnaire. RES...

Consanguineous marriages are strongly favoured among the populations of South India. In a study conducted on 407 infants and children, a total of 35 genetic diseases was diagnosed in 63 persons: 44 with single gene defects, 12 with polygenic disorders, and seven with Down's syndrome. The coefficient of inbreeding of the total study group, F = 0.0414, was significantly higher than that previousl...

An extended family with chronic intestinal pseudo-obstruction which affected 11 of 54 members was studied. Patients presented with recurrent intestinal obstruction in childhood or adolescence: eight of the 11 died before the age of 30. Pedigree analysis showed four consanguineous marriages. The patients were all in the fifth generation and had established an autosomal recessive mode of inherita...

We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in ...

Although information about the precise world distribution and frequency of the inherited hemoglobin disorders is still limited, there is no doubt that they are going to pose an increasing burden on global health resources in the future. Their high frequency is a reflection of natural selection combined with a high frequency of consanguineous marriages in many countries, together with an epidemi...

Autosomal recessive childhood-onset non-syndromic deafness is one of the most frequent forms of inherited hearing impairment. Recently five different chromosomal regions, 7q31, 11q13.5, 13q12, 14q and the pericentromeric region of chromosome 17, have been shown to harbour disease loci for this type of neurosensory deafness. We have studied a large family from Pakistan, containing several consan...

A retrospective study was conducted on prenatal and postnatal mortality among the populations of seven cities in the Pakistani province of Punjab. Consanguineous marriages were strongly favoured and the coefficients of inbreeding (F) for the present generation in each locality ranged from 0.0236 to 0.0286. There was a highly significant relationship between the degree of inbreeding and mortalit...

Genetic disorders are responsible for a significant proportion of perinatal morbidity, mortality, infant deaths, and handicaps. Their incidence in Arab countries is higher than in the developed world. This is attributed to ethnic diversity, consanguineous marriages, large family size, advanced maternal and paternal age, lack of resources that deal specifically with genetic diseases, lack of pub...

Autosomal-recessive genes account for about 80% of the patients of non-syndromic deafness, and a major portion of those lead to cochlear pathology. Given the strong cultural practice of consanguineous marriages and the lack of awareness regarding screening modalities, a high prevalence of hereditary pre-lingual deafness is seen in Pakistan. Considering the situation, cochlear implant surgery wa...