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Clinical Problem Solving: Pathology
January 2002

Diagnosis Pathology Quiz Case 2

Author Affiliations


Arch Otolaryngol Head Neck Surg. 2002;128(1):78-79. doi:

The thalassemias are a heterogeneous collection of disorders that are classified as hemoglobinopathies. As a group, they represent the most common single gene disorder. They may be found in any ethnic population, but are most common in individuals from the Mediterranean area and parts of Asia and Africa. More than 100 different gene mutations are known to cause the β-thalassemias, with the homozygous form known as thalassemia major and the heterozygous form, thalassemia minor. Approximately 10% of individuals with the heterozygous state will have a less severe form, and their condition is termed thalassemia intermedia.1

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