Beta-thalassemia classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
Any given individual has two β globin alleles:
| Name | Description | Alleles |
|---|---|---|
| β thalassemia minor (sometimes called β thalassemia trait) | If only one β globin allele bears a mutation. This is a mild microcytic anemia. Detection usually involves measuring the mean corpuscular volume (size of red blood cells) and noticing a slightly decreased mean volume than normal. The patient will have an increased fraction of Hemoglobin A2 (>2.5%) and a decreased fraction of Hemoglobin A (<97.5%). | β+/β or βo/β |
| β thalassemia major or Cooley's anemia | If both alleles have thalassemia mutations. This is a severe microcytic, hypochromic anemia. Untreated, this progresses to death before age twenty. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Cure is possible by bone marrow transplantation. | β+/β+ or βo/βo |
| Thalassemia intermedia | A condition intermediate between the major and minor forms. Affected individuals can often manage a normal life but may need occasional transfusions e.g. at times of illness or pregnancy, depending on the severity of their anemia. | β+/β+ or βo/β |
Note that β+/β+ can be associated with β thalassemia minor or β thalassemia intermedia.