A hemophiliac boy was hospitalized due to head injury in the previous sixteen days. On asmission the consciousness decreased and visus of both eyes was 1/oo. CT scan showed blood clot in the area of dorsomedial of medial cerebral arteria and sign of hydrocephalus. A surgical procedure could not be taken due to lack of facilities (antihemophilic factor supply and assay of factor VIII activity). …
A diagnosis of thalassemia has advanced from clinical to molecular in concordance with the advances in molecular biology. Since the introduction of polymerase chain reaction procedure-a practical in vitro procedure of deoxyribonucleic acid amplification-various diagnostic methods have been developed, to detects either gene deletions or point mutations. In a population where the spectrum of muta…
The clinical diagnosis of thalassemia syndrome is not difficult to establish with relatively simple Investigations, but molecular study is needed to determine the genotype and for the prenatal diagnosis. In the molecular study, the DNA should be first amplifed and among the amplification techniques polymerase chain reaction is the simplest and the most rapid one. The procedure can in vitro ampl…