Postmortem molecular diagnosis of sickle β thalassaemia

• Published in: Journal of clinical pathology 2005-05, Vol.58 (5), p.548-549
• Main Authors: Kutlar, F, Mirmow, D, Glendenning, M, Holley, L, Kutlar, A
• Format: Article
• Language: English
• Subjects: Aged; Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - genetics; Anemias. Hemoglobinopathies; Autopsy; Base Sequence; beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Biological and medical sciences; Codon - genetics; Diseases of red blood cells; Female; Globins - genetics; Hematologic and hematopoietic diseases; Humans; Investigative techniques, diagnostic techniques (general aspects); MCG; Medical College of Georgia; Medical sciences; molecular diagnosis; Molecular Sequence Data; Mutation; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; PCR; polymerase chain reaction; polymerase chain reaction amplification; postmortem; Promoter Regions, Genetic - genetics; SCD; sequencing; Short Reports/Case Reports; sickle cell disease
• ISSN: 0021-9746; 1472-4146
• DOI: 10.1136/jcp.2004.018127

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.