Related Experiment Video
Updated: May 27, 2026
05:23
Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
Sudden death after exercise in an adolescent with hemoglobin SE
Elise F Arbefeville1, Cameron K Tebbi, Leszek Chrostowski
1Department of Pathology and Cell Biology, University of South Florida, Tampa, USA.
The American Journal of Forensic Medicine and Pathology
|November 22, 2011
Summary
Hemoglobin SE compound heterozygosity, a rare condition, was diagnosed posthumously in a 12-year-old boy who died after football practice. The death was linked to cardiac ischemia caused by sickled red blood cells.
Area of Science:
- Hematology
- Genetics
- Pathology
Background:
- Hemoglobin S (Hb S) and Hemoglobin E (Hb E) are common variant hemoglobins.
- Compound heterozygosity for Hb SE is rare due to geographical prevalence.
- Previously, no deaths were reported for hemoglobin SE compound heterozygosity.
Observation:
- A 12-year-old American boy with undiagnosed hemoglobinopathy SE collapsed during football practice.
- He experienced cardiac arrest shortly after collapsing.
- Autopsy revealed intravascular sickling, with postmortem hemoglobin electrophoresis showing 57% Hb S, 34% Hb E, and 1% Hb F.
Findings:
- The death is attributed to cardiac ischemia.
- Functional vaso-occlusion by sickled erythrocytes is identified as the cause.
- This case represents a previously unreported cause of death in individuals with hemoglobin SE.
Implications:
- Highlights the potential risks of hemoglobin SE compound heterozygosity, especially under physical stress.
- Suggests that individuals with Hb SE may be at risk for sudden death during strenuous activity.
- Underscores the importance of diagnosing hemoglobinopathies, even rare variants like Hb SE.
Related Concept Videos
01:24Hemoglobin
Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
01:23Hypoxia
Hypoxia is a medical condition characterized by an inadequate oxygen supply to body tissues. It typically manifests as a bluish discoloration of the skin and mucosae, especially in fair-skinned individuals, when hemoglobin (Hb) saturation drops below 75%.
Types of Hypoxia
There are four primary types of hypoxia, each resulting from a different cause:
1. Anemic hypoxia: This type occurs due to insufficient oxygen delivery caused by a lack of red blood cells (RBCs) or RBCs with abnormal or...
Types of Hypoxia
There are four primary types of hypoxia, each resulting from a different cause:
1. Anemic hypoxia: This type occurs due to insufficient oxygen delivery caused by a lack of red blood cells (RBCs) or RBCs with abnormal or...
01:20Exercise and Cardiovascular Response
Exercise significantly impacts cardiovascular response, which is crucial for understanding patient health and designing effective treatment plans.
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
01:27Disorders of Erythrocytes
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
01:21Acute Respiratory Failure-II
Type I Respiratory Failure, or hypoxemic respiratory failure, occurs when the partial pressure of oxygen (PaO2) in arterial blood falls below 60 mmHg while breathing room air without a corresponding increase in arterial carbon dioxide levels (PaCO2). This condition highlights a significant impairment in the lungs' capacity to oxygenate the blood.
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
01:26Exercise Stress Test
Introduction
Exercise stress testing, commonly known as a treadmill test, is a noninvasive procedure used to evaluate cardiovascular function and diagnose heart conditions.
Definition
An exercise stress test measures the heart's response to exertion using a treadmill or stationary bicycle. Chest electrodes record the heart's electrical activity through an ECG, and blood pressure is monitored regularly.
Purposes
Exercise stress testing, commonly known as a treadmill test, is a noninvasive procedure used to evaluate cardiovascular function and diagnose heart conditions.
Definition
An exercise stress test measures the heart's response to exertion using a treadmill or stationary bicycle. Chest electrodes record the heart's electrical activity through an ECG, and blood pressure is monitored regularly.
Purposes