Postmortem molecular diagnosis of sickle β thalassaemia: Figure 1

Abstract

This report describes a case in which the diagnosis of sickle cell disease (SCD) was established after death. The diagnosis of sickle cell syndrome was made in a 68 year old black patient who was found to have sickled red blood cells in many organs at necropsy although the disease had not been diagnosed during her lifetime. DNA was isolated from a peripheral blood smear obtained on the day of the patient’s death. The β globin gene was polymerase chain reaction amplified and sequenced, revealing that the patient had S-β+thalassaemia. This study shows that blood smears are a suitable source for retrospective DNA analysis studies. This case illustrates that relatively “mild” forms of SCD can be overlooked, despite symptomatology suggestive of a sickle syndrome, and demonstrates the feasibility of the postmortem molecular diagnosis of haemoglobinopathies in such cases.

Uric Acid Concentration in Patients with Sickle Cell Anaemia Presenting with Vaso-Occlusive Crises in Uch, Ibadan

“…Haemoglobin S results from a single codon mutation characterized by the substitution of Guanine-Adenine-Guanine (GAG) to Guanine-Thymine-Guanine (GTG) in the sixth position of beta-globin gene codon on chromosome 11, this leads to an amino acid replacement of water-soluble glutamic acid to an insoluble valine [4]. In the deoxygenated, it forms polymers within the red cell, this result in physical deformation of the erythrocytes containing these polymerized Presenting with Vaso-Occlusive Crises in Uch, Ibadan HbS to sickle red cells.…”

“…In the deoxygenated, it forms polymers within the red cell, this result in physical deformation of the erythrocytes containing these polymerized Presenting with Vaso-Occlusive Crises in Uch, Ibadan HbS to sickle red cells. The sickled red cells can occlude microvasculatures which is responsible for the crises and the chronic complications of patients with sickle cell anaemia [4]. The commonest crisis in patients with SCA is vasoocclusive crisis (VOC) [5].…”