Molecular genetic diagnosis of beta thalassemia in Pakistan

A set of procedures, based on DNA analysis, has been developed to detect deletions and point mutations causing Beta thalassemia in the Pakistani population. These procedures can be used to analyze the presence of relevant changes in DNA, thus providing a reliable means for screening the high risk families, to provide them genetic counseling and prenatal diagnosis during early pregnancy. We have identified two mutations IVS-1 nt.5 [G--C] and codon 8-9 [+G] in 4 of the 6 families analysed for these mutations

Screening for inherited metabolic disorders at Shaikh Zayed hospital

Intermarriages within the families are prevalent in the Pakistani society which may cause spread of genetic disorders. To assess the magnitude of the problem a preliminary screening program was started. Out of the 116 screened, 54 [or 49.5%] were those whose relatives were affected. Family history was available in only 109 cases. Among them the parents of 64 were first, second or distant counsins

Serum cholinesterase levels in a sample village population

Serum cholinesterase [CHS] levels in a sample village population in Pakistan were estimated. It was found that three in 45 [6.7%] of the subjects had quite low CHS levels whereas six out of 45 subjects [13.3%] had moderately low cholinesterase levels. It is suspected that this low CHS level probably was due to actual exposure or exposure to spray-drift of organophosphorous pesticides used in the agricultural fields

case of alkaptonuria

A five and a half months old baby boy was brought to the Pediatrics Department, Shaikh Zayed Hospital, Lahore on November 27, 1989 with a complaint of passing, since birth, normal color urine which turns dark on standing. Clinically Alkaptonuria was diagnosed, strongly supported by biochemical tests