Sudden death due to a haemoglobin variant

Bock, Henry C; Seidl, S.; Hausmann, Roland; Betz, P.

doi:10.1007/s00414-003-0412-5

Cited by 8 publications

(5 citation statements)

References 16 publications

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“…2,3 An argument could be made that HgbAS does sometimes masquerade as true SCD with vaso-occlusive events. 5,16 One hypothesis might be because of a concomitant occurrence of HgbAS sickle cell trait with thalassemia, but postmortem proof of thalassemia requires genetic testing, and that testing only works for a limited number of known hemoglobin defects. 17,18 One such successful postmortem genomic DNA molecular diagnostic examination has been reported, and that report does include a discussion of bone marrow fat embolism.…”

Section: Discussionmentioning

confidence: 99%

Sickle Cell Disease

Hawley

McCarthy

2009

American Journal of Forensic Medicine &Amp; Pathology

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Acute chest syndrome (ACS) in patients with sickle cell disease (SCD) is a common complication contributing to death. ACS can present as sudden, unexpected death, and the medical history of SCD may not be immediately available for the medical examiner. Forensic implications for ACS are more likely to be encountered in patients with the HgbSC variant of SCD because the presence of a spleen may obscure recognition of SCD. Pathologists commonly observe small bone marrow emboli within the lung vasculature postmortem after trauma or vigorous cardiopulmonary resuscitation. Consequently, the finding of pulmonary marrow emboli in ACS may be dismissed as incidental and nonpathologic. Pulmonary marrow emboli cause ACS in patients with SCD, when there is parvoviral infection with marrow necrosis. Pulmonary marrow embolism in ACS has special significance in forensic pathology. Forensic pathologists investigate sudden, unexpected deaths during exertion, such as athletics, police pursuit, or military training. A causal relationship linking sickling hemoglobinopathy with physical exertion and sudden death has been reported. In the absence of a specific and timely medical history of SCD, and with a normal or enlarged spleen in patients with HgbSC, pathologists may wrongly dismiss bone marrow emboli as consequences of cardiopulmonary resuscitation, when those emboli might actually have been causative of fatal ACS.

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Section: Discussionmentioning

confidence: 99%

Sickle Cell Disease

Hawley

McCarthy

2009

American Journal of Forensic Medicine &Amp; Pathology

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“…The investigation of sudden, unexpected death is an important and challenging issue in medico-legal autopsy practice, occasionally placing heavy demands on the forensic pathologist to provide satisfactory answers to the investigating authorities in specific cases [2,3,5,9,10,20,33]. Apart from Mallory-Weiss syndrome and ruptured oesophageal varices [33], acute necrotising oesophagitis has been described as the source of fatal upper gastrointestinal bleeding in association with carcinoma of the oesophagus [1,29] and after medications had failed to transit the oesophagus and acted locally ultimately producing necrotising oesophagitis [18].…”

Section: Discussionmentioning

confidence: 99%

Black oesophagus: a rare disorder with potentially fatal outcome

Tsokos

Herbst

2005

Int J Legal Med

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Black oesophagus is a rare pathological condition of unknown aetiology characterised by a full length, circumferential black discolouration of the entire oesophageal mucosa. The disease is sporadically encountered during upper gastrointestinal endoscopy. We used conventional histology, enzyme histochemistry and immunohistology to examine five autopsy cases (four males, one female; age range 43-86 years) of black oesophagus. On microscopical examination, the esophageal mucosa was entirely necrotic with demarcation by a leukocytic infiltrate in the upper submucosa. This infiltrate was dominated by neutrophilic granulocytes and scattered macrophages lacking haemosiderin deposits, placing the noxious mucosal injury in a time frame of approximately 24-72 h prior to death. Black oesophagus was established as the immediate cause of death in one case due to desanguination from the oesophagus and significantly contributed to the fatal outcome in a second case. Apart from a history of chronic alcohol consumption in four cases, no other pre-existing pathological or debilitating conditions could be established. The remarkably consistent pathomorphological picture of the disease seems to be the result of impaired microcirculation of the oesophageal mucosa due to prolonged hypotension of variable aetiology. The diagnosis of black oesophagus requires exclusion of other causes such as ingestion of caustic materials and should be based on histological examination.

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“…Analysis and quantification of hemoglobin and its variants can gain great importance in medicolegal casework [8,23], especially in fire victims where the detection of carbon monoxide hemoglobin is crucial for the diagnoses of the cause of death and the vitality [12].…”

Section: Discussionmentioning

confidence: 99%

A Monte Carlo-based model for steady-state diffuse reflectance spectrometry in human skin: estimation of carbon monoxide concentration in livor mortis

Bohnert¹,

Walther

Roths

et al. 2005

Int J Legal Med

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In terms of physics, the skin can be regarded as an optically turbid medium in which the light is mainly scattered by the collagen fibers, mitochondria and cell nuclei, whereas the absorption is determined by the content of reduced hemoglobin, oxyhemoglobin, bilirubin, and melanin. When the measuring geometry and the illumination spectrum are known, the optical characteristics of the skin can be approximately described by the diffusion and absorption coefficients. These values define the diffusion and absorption probability per unit distance traveled for each wavelength. Based on these parameters, a mathematical skin model was developed with the help of Monte Carlo simulations. By implementing the absorption coefficient of carbon monoxide hemoglobin (CO-Hb) into the skin model, the authors wanted to investigate whether this method is suitable to determine the CO-Hb concentration from spectral reflectance curves of livores. The investigations performed on 28 deaths from CO poisoning so far showed that this is generally possible. In almost all cases, the actual CO-Hb values could be estimated correctly by using the Monte Carlo simulations.

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Sudden death due to a haemoglobin variant

Cited by 8 publications

References 16 publications

Sickle Cell Disease

Sickle Cell Disease

Black oesophagus: a rare disorder with potentially fatal outcome

A Monte Carlo-based model for steady-state diffuse reflectance spectrometry in human skin: estimation of carbon monoxide concentration in livor mortis

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