Postmortem molecular diagnosis of sickle β thalassaemia

F. Kutlar, D. Mirmow, M. Glendenning, L. Holley, A. Kutlar

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)548-549
Number of pages2
JournalJournal of Clinical Pathology
Volume58
Issue number5
DOIs
StatePublished - May 1 2005

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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