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Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
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...
Signs of Puberty01:27

Signs of Puberty

Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
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Chickenpox

Chickenpox is an acute, highly contagious disease caused by the varicella-zoster virus (VZV), a double-stranded DNA virus belonging to the Herpesviridae family. Its transmission occurs primarily through the inhalation of respiratory droplets or direct contact with vesicular fluid from skin lesions. The incubation period typically ranges from 10 to 21 days, during which the virus replicates and disseminates through sequential phases within the host. Although generally self-limiting in children,...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
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[A boy with jaundice].

Antonius A M Ermens1, Ron H van Beek

  • 1Amphia Ziekenhuis, Klinisch chemisch en hematologisch laboratorium, Breda, The Netherlands. aermens@amphia.nl

Nederlands Tijdschrift Voor Geneeskunde
|March 31, 2011
PubMed
Summary
This summary is machine-generated.

Glucose-6-phosphate dehydrogenase deficiency can cause hemolytic anemia, especially in children. Eating fava beans triggered this condition in a young boy, leading to jaundice and characteristic blister cells.

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Area of Science:

  • Pediatrics
  • Hematology
  • Genetics

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
  • It can lead to hemolytic anemia, particularly when exposed to certain triggers.
  • Jaundice in infants warrants a thorough investigation into potential underlying causes.

Observation:

  • A 1-year-old boy presented with jaundice.
  • Peripheral blood smear examination revealed the presence of 'blister cells'.
  • This specific finding is a key indicator of red blood cell breakdown.

Findings:

  • The observed blister cells are characteristic of hemolysis.
  • Hemolysis in this case was strongly associated with glucose-6-phosphate dehydrogenase deficiency.
  • The trigger for the hemolytic episode was identified as the ingestion of fava beans.

Implications:

  • This case highlights the importance of considering G6PD deficiency in infants with jaundice and specific blood smear findings.
  • Awareness of fava bean (Vicia faba) as a trigger is crucial for preventing future hemolytic crises in affected individuals.
  • Early diagnosis and avoidance of triggers can prevent severe complications associated with G6PD deficiency.