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Related Concept Videos

Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Disorders of Erythrocytes01:27

Disorders 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...
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
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Pigmentation01:19

Pigmentation

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Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...

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Related Experiment Video

Updated: Jul 19, 2026

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology
16:46

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology

Published on: June 3, 2014

[Increased haemoglobin A2 levels in pseudoxanthoma elasticum].

L Martin1, S Pissard, P Blanc

  • 1Consultation Multidisciplinaire PXE, CHR d'Orléans, Cedex, France. ludovic.martin@chr-orleans.fr

Annales De Dermatologie Et De Venereologie
|October 21, 2006
PubMed
Summary

Pseudoxanthoma elasticum (PXE) in French patients did not show beta thalassemia. However, an isolated increase in hemoglobin A2 (HbA2) was observed in 20% of cases, suggesting it may be a laboratory marker for PXE.

Related Experiment Videos

Last Updated: Jul 19, 2026

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology
16:46

A Novel Stretching Platform for Applications in Cell and Tissue Mechanobiology

Published on: June 3, 2014

Area of Science:

  • Genetics and Molecular Biology
  • Dermatology
  • Hematology

Context:

  • Pseudoxanthoma elasticum (PXE) is typically linked to ABCC6 gene mutations.
  • A PXE phenotype without ABCC6 mutations has been noted in patients with beta-thalassemia.
  • The association between PXE and beta-thalassemia in French patients was investigated.

Purpose:

  • To determine the incidence of beta-thalassemia in a French cohort of PXE patients.
  • To explore the relationship between PXE, ABCC6 gene, and beta-globin locus.
  • To identify potential biomarkers for PXE.

Summary:

  • No cases of beta-thalassemia were found in 50 French PXE patients.
  • 20% of patients showed an isolated increase in hemoglobin A2 (HbA2) without microcytic anemia.
  • Beta-globin gene mutations were found only in patients with the highest HbA2 levels; ABCC6 + beta-globin digenism was excluded as a cause of PXE.

Impact:

  • Suggests that an isolated increase in HbA2 may serve as a laboratory marker for PXE.
  • Highlights a potential epigenetic interaction between ABCC6 transcription and the beta-globin locus in PXE.
  • Indicates that while beta-thalassemia can cause PXE, increased HbA2 in PXE has no clinical consequences.