Dictionary of Human Evolution and Biology

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Thalassemia, Beta

Inherited autosomal codominant abnormality of blood, divided into three clinical entities.
(1) Thalassemia major is an often severe condition in which the amount of hemoglobin is decreased by the action of a recessive beta allele when in the homozygous condition; characterized by severe anemia and defects in bone, liver, and spleen that are ultimately fatal.
(2) Thalassemia intermedia, characterized by mild anemia in persons heterozygous for the same autosomal recessive allele that, when homozygous, causes thalassemia major; t. intermedia also confers some resistance to malaria.
(3) Thalassemia minor can be asymptomatic or result in mild anemia; this deficiency also confers some resistance to malaria (Aka Cooley’s anemia). The beta form is found worldwide, and is common in Africa, the Caucasus, Asia, Europe, and the Americas.

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