RESUMO
Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. This single-centre study reported the frequency of haemoglobinopathies among 504 consecutive cases visiting Islamabad Diagnostic Centre for haemoglobin electrophoresis from July 2010 to February 2011. Haemoglobin electrophoresis was performed on cellulose acetate membrane, followed by staining and densitometric scanning of bands. A total of 143 [28.4%] subjects had haemoglobinopathies. The most predominant was thalassaemia trait [25.6%], followed by thalassaemia major [1.4%] and HbS or HbD [1.4%]. The gene frequencies for thalassaemia trait and major were 0.256 and 0.0139 respectively. The study provides support for continuing efforts towards early detection and characterization of haemoglobinopathies to control the affected births in Pakistan
Assuntos
Talassemia beta , Hemoglobina Falciforme , Estudos Transversais , Eletroforese , Genótipo , HemoglobinopatiasRESUMO
The proportion of sickle haemoglobin [HbS] was determined in 170 sickle-cell-trait individuals; 75 [44.1%] individuals had HbS% > 38%, 54 [31.8%] had HbS% between 31% and 38% and 41 [24.1%] had HbS% < 31%. There was positive correlation between HbS% and haemoglobin concentration, packed cell volume, mean corpuscular haemoglobin, mean corpuscular volume and target cell percentage. Multiple regression analysis indicated that measurement of haemoglobin concentration, mean corpuscular haemoglobin and target cell percentage could be used to predict the HbS%
Assuntos
Traço Falciforme , Eletroforese , Anemia Falciforme , Hemoglobina FalciformeRESUMO
Our studies of the Saudi population have shown that in patients with mild presentation of sickle-cell disease [SCD] from Saudi Arabia's eastern region, the prevalence of polymorphic sites is high. However, the prevalence is very low in patients with severe SCD from the south-west of the country. We expanded these studies to a group of Yemeni patients with severe SCD, resident in Riyadh. We investigated a total of 60 chromosomes carrying the sickle-cell [Hb S] gene and 14 chromosomes carrying the Hb A gene. Amongst the Hb AA group, the prevalence was 42.9% and 57.1% for the presence [+] and absence [-] of Xmn I polymorphic sites. In the Hb SS individuals, the prevalence of Xmn I polymorphic sites was similar to the prevalence reported in the south-western region of Saudi Arabia